Canonical Allele Identifier: CA7551867
Gene: FGF7 HGNC NCBI
FAM227B HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.49424404C>T , CM000677.2:g.49424404C>T GRCh38
NC_000015.9:g.49716601C>T , CM000677.1:g.49716601C>T GRCh37
NC_000015.8:g.47503893C>T NCBI36
NG_029159.1:g.6227C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267843.9:c.107C>T (FGF7) MANE Select ENSP00000267843.4:p.Thr36Ile
ENST00000299338.11:c.1013-53005G>A (FAM227B) MANE Select ENSP00000299338.6:n.1013-53005G>A
ENST00000267843.8:c.107C>T (FGF7) ENSP00000267843.4:p.Thr36Ile
ENST00000299338.10:c.1013-53005G>A (FAM227B) ENSP00000299338.6:n.1013-53005G>A
ENST00000560270.1:c.107C>T (FGF7) ENSP00000454205.1:p.Thr36Ile
ENST00000560765.6:c.107C>T (FGF7) ENSP00000453048.1:p.Thr36Ile
ENST00000560979.1:c.-31-37C>T (FGF7) ENSP00000453980.1:n.-31-37C>T
ENST00000561064.5:c.911-1690G>A (FAM227B) ENSP00000453028.1:n.911-1690G>A
ENST00000614567.4:c.107C>T (FGF7) ENSP00000478148.1:p.Thr36Ile
NM_002009.3:c.107C>T (FGF7) NP_002000.1:p.Thr36Ile
NM_152647.2:c.1013-53005G>A (FAM227B) NP_689860.2:n.1013-53005G>A
XM_005254213.3:c.1013-53005G>A (FAM227B) XP_005254270.1:n.1013-53005G>A
XM_005254214.3:c.1013-53005G>A (FAM227B) XP_005254271.1:n.1013-53005G>A
XM_005254215.3:c.977-53005G>A (FAM227B) XP_005254272.1:n.977-53005G>A
XM_005254216.3:c.911-53005G>A (FAM227B) XP_005254273.1:n.911-53005G>A
XM_005254219.3:c.1013-53005G>A (FAM227B) XP_005254276.1:n.1013-53005G>A
XM_006720423.2:c.1013-53005G>A (FAM227B) XP_006720486.1:n.1013-53005G>A
XM_006720424.2:c.1013-53005G>A (FAM227B) XP_006720487.1:n.1013-53005G>A
XM_006720426.2:c.872-53005G>A (FAM227B) XP_006720489.1:n.872-53005G>A
XM_006720427.2:c.764-53005G>A (FAM227B) XP_006720490.1:n.764-53005G>A
XM_011521318.1:c.1013-53005G>A (FAM227B) XP_011519620.1:n.1013-53005G>A
XM_011521319.1:c.1013-53005G>A (FAM227B) XP_011519621.1:n.1013-53005G>A
XM_011521320.1:c.611-53005G>A (FAM227B) XP_011519622.1:n.611-53005G>A
XM_011521321.1:c.1013-53005G>A (FAM227B) XP_011519623.1:n.1013-53005G>A
XM_011521322.1:c.575-53005G>A (FAM227B) XP_011519624.1:n.575-53005G>A
XM_011521323.1:c.*47-1690G>A (FAM227B) XP_011519625.1:n.*47-1690G>A
XM_011521324.1:c.1013-1690G>A (FAM227B) XP_011519626.1:n.1013-1690G>A
XM_011521326.1:c.911-1690G>A (FAM227B) XP_011519628.1:n.911-1690G>A
XR_931762.1:n.1497-1690G>A (FAM227B)
XR_931763.1:n.1618-1690G>A (FAM227B)
XR_931764.1:n.1505-1690G>A (FAM227B)
NM_001330293.1:c.911-1690G>A (FAM227B) NP_001317222.1:n.911-1690G>A
XM_006720423.3:c.1013-53005G>A (FAM227B) XP_006720486.1:n.1013-53005G>A
XM_006720427.4:c.764-53005G>A (FAM227B) XP_006720490.1:n.764-53005G>A
XM_011521319.2:c.1013-53005G>A (FAM227B) XP_011519621.1:n.1013-53005G>A
XM_011521321.2:c.1013-53005G>A (FAM227B) XP_011519623.1:n.1013-53005G>A
XM_017021990.1:c.770-53005G>A (FAM227B) XP_016877479.1:n.770-53005G>A
XM_017021991.2:c.764-53005G>A (FAM227B) XP_016877480.1:n.764-53005G>A
XM_017021992.1:c.713-53005G>A (FAM227B) XP_016877481.1:n.713-53005G>A
XM_017021993.1:c.770-53005G>A (FAM227B) XP_016877482.1:n.770-53005G>A
XM_017021994.1:c.671-53005G>A (FAM227B) XP_016877483.1:n.671-53005G>A
XM_017021995.1:c.1013-53005G>A (FAM227B) XP_016877484.1:n.1013-53005G>A
XM_017021996.1:c.611-53005G>A (FAM227B) XP_016877485.1:n.611-53005G>A
XM_024449861.1:c.662-53005G>A (FAM227B) XP_024305629.1:n.662-53005G>A
XM_024449865.1:c.872-1690G>A (FAM227B) XP_024305633.1:n.872-1690G>A
XM_024449866.1:c.671-53005G>A (FAM227B) XP_024305634.1:n.671-53005G>A
NM_002009.4:c.107C>T (FGF7) MANE Select NP_002000.1:p.Thr36Ile
NM_001330293.2:c.911-1690G>A (FAM227B) NP_001317222.1:n.911-1690G>A
NM_152647.3:c.1013-53005G>A (FAM227B) MANE Select NP_689860.2:n.1013-53005G>A