Canonical Allele Identifier: CA552289776

Gene: GC

Linked Data

• dbSNP Id: rs1396103305
• gnomAD v2: 4-72616976-T-A
• MyVariant Identifiers: chr4:g.72616976T>A (hg19) ; chr4:g.71751259T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71751259T>A , CM000666.2:g.71751259T>A	GRCh38
NC_000004.11:g.72616976T>A , CM000666.1:g.72616976T>A	GRCh37
NC_000004.10:g.72835840T>A	NCBI36
NG_012837.2:g.59262A>T
NG_012837.3:g.59262A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.1395+1259A>T MANE Select	ENSP00000273951.8:n.1395+1259A>T
ENST00000273951.12:c.1395+1259A>T	ENSP00000273951.8:n.1395+1259A>T
ENST00000503364.5:n.68+3152A>T
ENST00000503472.5:n.1279+1259A>T
ENST00000504199.5:c.1452+1259A>T	ENSP00000421725.1:n.1452+1259A>T
ENST00000509740.5:c.*218+1259A>T	ENSP00000422664.1:n.*218+1259A>T
ENST00000513476.5:c.1395+1259A>T	ENSP00000426683.1:n.1395+1259A>T
NM_000583.3:c.1395+1259A>T	NP_000574.2:n.1395+1259A>T
NM_001204306.1:c.1395+1259A>T	NP_001191235.1:n.1395+1259A>T
NM_001204307.1:c.1452+1259A>T	NP_001191236.1:n.1452+1259A>T
XM_006714177.2:c.1262+3152A>T	XP_006714240.1:n.1262+3152A>T
XM_006714177.3:c.1262+3152A>T	XP_006714240.1:n.1262+3152A>T
NM_000583.4:c.1395+1259A>T MANE Select	NP_000574.2:n.1395+1259A>T