Canonical Allele Identifier: CA552292655

Gene: GC

Linked Data

• dbSNP Id: rs1221448159
• gnomAD v2: 4-72648789-G-A
• gnomAD v3: 4-71783072-G-A
• gnomAD v4: 4-71783072-G-A
• MyVariant Identifiers: chr4:g.72648789G>A (hg19) ; chr4:g.71783072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71783072G>A , CM000666.2:g.71783072G>A	GRCh38
NC_000004.11:g.72648789G>A , CM000666.1:g.72648789G>A	GRCh37
NC_000004.10:g.72867653G>A	NCBI36
NG_012837.2:g.27449C>T
NG_012837.3:g.27449C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.58+889C>T MANE Select	ENSP00000273951.8:n.58+889C>T
ENST00000273951.12:c.58+889C>T	ENSP00000273951.8:n.58+889C>T
ENST00000504199.5:c.115+889C>T	ENSP00000421725.1:n.115+889C>T
ENST00000506245.1:c.58+889C>T	ENSP00000426718.1:n.58+889C>T
ENST00000509740.5:c.58+889C>T	ENSP00000422664.1:n.58+889C>T
ENST00000513476.5:c.58+889C>T	ENSP00000426683.1:n.58+889C>T
NM_000583.3:c.58+889C>T	NP_000574.2:n.58+889C>T
NM_001204306.1:c.58+889C>T	NP_001191235.1:n.58+889C>T
NM_001204307.1:c.115+889C>T	NP_001191236.1:n.115+889C>T
XM_006714177.2:c.58+889C>T	XP_006714240.1:n.58+889C>T
XM_006714177.3:c.58+889C>T	XP_006714240.1:n.58+889C>T
NM_000583.4:c.58+889C>T MANE Select	NP_000574.2:n.58+889C>T