Canonical Allele Identifier: CA357204643

Gene: GC

Linked Data

• dbSNP Id: rs1741784849
• MyVariant Identifiers: chr4:g.72622434C>T (hg19) ; chr4:g.71756717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756717C>T , CM000666.2:g.71756717C>T	GRCh38
NC_000004.11:g.72622434C>T , CM000666.1:g.72622434C>T	GRCh37
NC_000004.10:g.72841298C>T	NCBI36
NG_012837.2:g.53804G>A
NG_012837.3:g.53804G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.1029G>A MANE Select	ENSP00000273951.8:p.Met343Ile
ENST00000273951.12:c.1029G>A	ENSP00000273951.8:p.Met343Ile
ENST00000503472.5:n.913G>A
ENST00000504199.5:c.1086G>A	ENSP00000421725.1:p.Met362Ile
ENST00000509740.5:c.1029G>A	ENSP00000422664.1:p.Met343Ile
ENST00000513476.5:c.1029G>A	ENSP00000426683.1:p.Met343Ile
NM_000583.3:c.1029G>A	NP_000574.2:p.Met343Ile
NM_001204306.1:c.1029G>A	NP_001191235.1:p.Met343Ile
NM_001204307.1:c.1086G>A	NP_001191236.1:p.Met362Ile
XM_006714177.2:c.1029G>A	XP_006714240.1:p.Met343Ile
XM_006714177.3:c.1029G>A	XP_006714240.1:p.Met343Ile
NM_000583.4:c.1029G>A MANE Select	NP_000574.2:p.Met343Ile