Canonical Allele Identifier: CA15253433
Gene: FRMD4B HGNC NCBI

Linked Data

dbSNP Id: rs6787362
gnomAD v2: 3-69227379-A-G
gnomAD v3: 3-69178228-A-G
gnomAD v4: 3-69178228-A-G
MyVariant Identifiers: chr3:g.69227379A>G (hg19) chr3:g.69178228A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69178228A>G , CM000665.2:g.69178228A>G GRCh38
NC_000003.11:g.69227379A>G , CM000665.1:g.69227379A>G GRCh37
NC_000003.10:g.69310069A>G NCBI36
NG_034059.1:g.213077T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000398540.8:c.2852-1572T>C MANE Select ENSP00000381549.3:n.2852-1572T>C
ENST00000398540.7:c.2852-1572T>C ENSP00000381549.3:n.2852-1572T>C
ENST00000478263.5:c.1808-1572T>C ENSP00000418682.1:n.1808-1572T>C
NM_015123.2:c.2852-1572T>C NP_055938.1:n.2852-1572T>C
XM_005264721.2:c.2885-1572T>C XP_005264778.2:n.2885-1572T>C
XM_005264722.1:c.2717-1572T>C XP_005264779.1:n.2717-1572T>C
XM_005264723.1:c.1808-1572T>C XP_005264780.1:n.1808-1572T>C
XM_006713063.2:c.2690-1572T>C XP_006713126.1:n.2690-1572T>C
XM_006713064.1:c.1985-1572T>C XP_006713127.1:n.1985-1572T>C
XM_011533526.1:c.2690-1572T>C XP_011531828.1:n.2690-1572T>C
XM_011533527.1:c.2117-1572T>C XP_011531829.1:n.2117-1572T>C
XM_017005989.1:c.2852-1572T>C XP_016861478.1:n.2852-1572T>C
XM_017005990.1:c.2717-1572T>C XP_016861479.1:n.2717-1572T>C
XM_017005991.1:c.2690-1572T>C XP_016861480.1:n.2690-1572T>C
XM_017005992.1:c.2690-1572T>C XP_016861481.1:n.2690-1572T>C
XM_017005993.1:c.2690-1572T>C XP_016861482.1:n.2690-1572T>C
XM_017005994.1:c.2690-1572T>C XP_016861483.1:n.2690-1572T>C
XM_017005995.1:c.2117-1572T>C XP_016861484.1:n.2117-1572T>C
XM_017005996.1:c.1985-1572T>C XP_016861485.1:n.1985-1572T>C
XM_017005997.1:c.1808-1572T>C XP_016861486.1:n.1808-1572T>C
NM_015123.3:c.2852-1572T>C MANE Select NP_055938.2:n.2852-1572T>C
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