Canonical Allele Identifier: CA107748716

Gene:

Linked Data

• dbSNP Id: rs559633563
• gnomAD v3: 4-144559608-C-A
• gnomAD v4: 4-144559608-C-A
• MyVariant Identifiers: chr4:g.145480760C>A (hg19) ; chr4:g.144559608C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559608C>A , CM000666.2:g.144559608C>A	GRCh38
NC_000004.11:g.145480760C>A , CM000666.1:g.145480760C>A	GRCh37
NC_000004.10:g.145700210C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143630G>T	ENSP00000497507.1:n.328-143630G>T
XR_939272.1:n.178+2376G>T
XR_939273.1:n.178+2376G>T
XR_939272.2:n.522+2376G>T
XR_939273.2:n.522+2376G>T