Canonical Allele Identifier: CA99065294

Gene: GC

Linked Data

• dbSNP Id: rs974035487
• gnomAD v2: 4-72621628-T-G
• gnomAD v3: 4-71755911-T-G
• gnomAD v4: 4-71755911-T-G
• MyVariant Identifiers: chr4:g.72621628T>G (hg19) ; chr4:g.71755911T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71755911T>G , CM000666.2:g.71755911T>G	GRCh38
NC_000004.11:g.72621628T>G , CM000666.1:g.72621628T>G	GRCh37
NC_000004.10:g.72840492T>G	NCBI36
NG_012837.2:g.54610A>C
NG_012837.3:g.54610A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.1034+801A>C MANE Select	ENSP00000273951.8:n.1034+801A>C
ENST00000273951.12:c.1034+801A>C	ENSP00000273951.8:n.1034+801A>C
ENST00000503472.5:n.918+801A>C
ENST00000504199.5:c.1091+801A>C	ENSP00000421725.1:n.1091+801A>C
ENST00000509740.5:c.1034+801A>C	ENSP00000422664.1:n.1034+801A>C
ENST00000513476.5:c.1034+801A>C	ENSP00000426683.1:n.1034+801A>C
NM_000583.3:c.1034+801A>C	NP_000574.2:n.1034+801A>C
NM_001204306.1:c.1034+801A>C	NP_001191235.1:n.1034+801A>C
NM_001204307.1:c.1091+801A>C	NP_001191236.1:n.1091+801A>C
XM_006714177.2:c.1034+801A>C	XP_006714240.1:n.1034+801A>C
XM_006714177.3:c.1034+801A>C	XP_006714240.1:n.1034+801A>C
NM_000583.4:c.1034+801A>C MANE Select	NP_000574.2:n.1034+801A>C