Canonical Allele Identifier: CA99062532

Gene: GC

Linked Data

• dbSNP Id: rs919167184
• gnomAD v3: 4-71751256-G-A
• gnomAD v4: 4-71751256-G-A
• MyVariant Identifiers: chr4:g.72616973G>A (hg19) ; chr4:g.71751256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71751256G>A , CM000666.2:g.71751256G>A	GRCh38
NC_000004.11:g.72616973G>A , CM000666.1:g.72616973G>A	GRCh37
NC_000004.10:g.72835837G>A	NCBI36
NG_012837.2:g.59265C>T
NG_012837.3:g.59265C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.1395+1262C>T MANE Select	ENSP00000273951.8:n.1395+1262C>T
ENST00000273951.12:c.1395+1262C>T	ENSP00000273951.8:n.1395+1262C>T
ENST00000503364.5:n.68+3155C>T
ENST00000503472.5:n.1279+1262C>T
ENST00000504199.5:c.1452+1262C>T	ENSP00000421725.1:n.1452+1262C>T
ENST00000509740.5:c.*218+1262C>T	ENSP00000422664.1:n.*218+1262C>T
ENST00000513476.5:c.1395+1262C>T	ENSP00000426683.1:n.1395+1262C>T
NM_000583.3:c.1395+1262C>T	NP_000574.2:n.1395+1262C>T
NM_001204306.1:c.1395+1262C>T	NP_001191235.1:n.1395+1262C>T
NM_001204307.1:c.1452+1262C>T	NP_001191236.1:n.1452+1262C>T
XM_006714177.2:c.1262+3155C>T	XP_006714240.1:n.1262+3155C>T
XM_006714177.3:c.1262+3155C>T	XP_006714240.1:n.1262+3155C>T
NM_000583.4:c.1395+1262C>T MANE Select	NP_000574.2:n.1395+1262C>T