Canonical Allele Identifier: CA90406251

Gene: FGF12

Linked Data

• ClinVar Variation Id: 2805811
• ClinVar RCV Id: RCV003676963
• dbSNP Id: rs969738682
• gnomAD v2: 3-192053228-G-A
• gnomAD v4: 3-192335439-G-A
• MyVariant Identifiers: chr3:g.192053228G>A (hg19) ; chr3:g.192335439G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.192335439G>A , CM000665.2:g.192335439G>A	GRCh38
NC_000003.11:g.192053228G>A , CM000665.1:g.192053228G>A	GRCh37
NC_000003.10:g.193535922G>A	NCBI36
NG_051966.1:g.397161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454309.7:c.336C>T	ENSP00000413496.2:p.Gly112=
ENST00000682819.2:n.403C>T
ENST00000683451.2:c.150C>T	ENSP00000508366.1:p.Gly50=
ENST00000682572.1:n.338C>T
ENST00000682819.1:n.369C>T
ENST00000683451.1:c.150C>T	ENSP00000508366.1:p.Gly50=
ENST00000683935.1:c.150C>T	ENSP00000507098.1:p.Gly50=
ENST00000684282.1:c.78C>T	ENSP00000507149.1:p.Gly26=
ENST00000684728.1:c.78C>T	ENSP00000506839.1:p.Gly26=
ENST00000445105.7:c.150C>T MANE Select	ENSP00000393686.1:p.Gly50=
ENST00000418610.1:c.150C>T	ENSP00000395517.1:p.Gly50=
ENST00000430714.5:c.39C>T	ENSP00000410125.1:p.Gly13=
ENST00000445105.6:c.150C>T	ENSP00000393686.1:p.Gly50=
ENST00000448795.5:c.78C>T	ENSP00000412904.1:p.Gly26=
ENST00000450716.5:c.150C>T	ENSP00000397635.1:p.Gly50=
ENST00000454309.6:c.336C>T	ENSP00000413496.2:p.Gly112=
NM_004113.5:c.150C>T	NP_004104.3:p.Gly50=
NM_021032.4:c.336C>T	NP_066360.1:p.Gly112=
XM_005247227.1:c.228C>T	XP_005247284.1:p.Gly76=
XM_006713538.2:c.141C>T	XP_006713601.1:p.Gly47=
XM_006713539.2:c.78C>T	XP_006713602.1:p.Gly26=
XM_005247227.2:c.228C>T	XP_005247284.1:p.Gly76=
XM_006713538.3:c.141C>T	XP_006713601.1:p.Gly47=
XM_024453395.1:c.78C>T	XP_024309163.1:p.Gly26=
NM_001377292.1:c.39C>T	NP_001364221.1:p.Gly13=
NM_001377293.1:c.78C>T	NP_001364222.1:p.Gly26=
NM_001377294.1:c.78C>T	NP_001364223.1:p.Gly26=
NM_004113.6:c.150C>T MANE Select	NP_004104.3:p.Gly50=
NM_021032.5:c.336C>T	NP_066360.1:p.Gly112=