Canonical Allele Identifier: CA788486311

Gene:

Linked Data

• dbSNP Id: rs1333872655
• gnomAD v3: 4-144559391-T-C
• gnomAD v4: 4-144559391-T-C
• MyVariant Identifiers: chr4:g.145480543T>C (hg19) ; chr4:g.144559391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559391T>C , CM000666.2:g.144559391T>C	GRCh38
NC_000004.11:g.145480543T>C , CM000666.1:g.145480543T>C	GRCh37
NC_000004.10:g.145699993T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143413A>G	ENSP00000497507.1:n.328-143413A>G
XR_939272.1:n.178+2593A>G
XR_939273.1:n.178+2593A>G
XR_939272.2:n.522+2593A>G
XR_939273.2:n.522+2593A>G