Canonical Allele Identifier: CA796265761

Gene:

Linked Data

• dbSNP Id: rs1800812
• MyVariant Identifiers: chr4:g.55094629G>C (hg19) ; chr4:g.54228462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54228462G>C , CM000666.2:g.54228462G>C	GRCh38
NC_000004.11:g.55094629G>C , CM000666.1:g.55094629G>C	GRCh37
NC_000004.10:g.54789386G>C	NCBI36
NG_009250.1:g.4366G>C , LRG_309:g.4366G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000507166.5:c.1018-46463G>C	ENSP00000423325.1:n.1018-46463G>C