Canonical Allele Identifier: CA3258482
Gene: FGF10 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.44305045G>C
GRCh37 chr5:g.44305147G>C
Revel Score:
ENST00000264664 (MANE Select) 0.509
gnomAD v2:
5:44305147 G / C
gnomAD v3:
5:44305045 G / C
gnomAD v4:
chr5-44305045-G-C
Joint Max Group AF 0.00000292 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.44305045G>C , CM000667.2:g.44305045G>C GRCh38
NC_000005.9:g.44305147G>C , CM000667.1:g.44305147G>C GRCh37
NC_000005.8:g.44340904G>C NCBI36
NG_011446.1:g.88638C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264664.5:c.577C>G MANE Select ENSP00000264664.4:p.Arg193Gly
ENST00000264664.4:c.577C>G ENSP00000264664.4:p.Arg193Gly
NM_004465.1:c.577C>G NP_004456.1:p.Arg193Gly
XM_005248264.2:c.577C>G XP_005248321.1:p.Arg193Gly
XM_005248264.4:c.577C>G XP_005248321.1:p.Arg193Gly
NM_004465.2:c.577C>G MANE Select NP_004456.1:p.Arg193Gly
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