Canonical Allele Identifier: CA788493110

Gene:

Linked Data

• dbSNP Id: rs1250511265
• MyVariant Identifiers: chr4:g.145522564A>C (hg19) ; chr4:g.144601412A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601412A>C , CM000666.2:g.144601412A>C	GRCh38
NC_000004.11:g.145522564A>C , CM000666.1:g.145522564A>C	GRCh37
NC_000004.10:g.145742014A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185434T>G	ENSP00000497507.1:n.328-185434T>G