Canonical Allele Identifier: CA357204883

Gene: GC

Linked Data

• gnomAD v4: 4-71756828-C-G
• MyVariant Identifiers: chr4:g.72622545C>G (hg19) ; chr4:g.71756828C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756828C>G , CM000666.2:g.71756828C>G	GRCh38
NC_000004.11:g.72622545C>G , CM000666.1:g.72622545C>G	GRCh37
NC_000004.10:g.72841409C>G	NCBI36
NG_012837.2:g.53693G>C
NG_012837.3:g.53693G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.918G>C MANE Select	ENSP00000273951.8:p.Met306Ile
ENST00000273951.12:c.918G>C	ENSP00000273951.8:p.Met306Ile
ENST00000503472.5:n.802G>C
ENST00000504199.5:c.975G>C	ENSP00000421725.1:p.Met325Ile
ENST00000509740.5:c.918G>C	ENSP00000422664.1:p.Met306Ile
ENST00000513476.5:c.918G>C	ENSP00000426683.1:p.Met306Ile
NM_000583.3:c.918G>C	NP_000574.2:p.Met306Ile
NM_001204306.1:c.918G>C	NP_001191235.1:p.Met306Ile
NM_001204307.1:c.975G>C	NP_001191236.1:p.Met325Ile
XM_006714177.2:c.918G>C	XP_006714240.1:p.Met306Ile
XM_006714177.3:c.918G>C	XP_006714240.1:p.Met306Ile
NM_000583.4:c.918G>C MANE Select	NP_000574.2:p.Met306Ile