Canonical Allele Identifier: CA107748475

Gene:

Linked Data

• dbSNP Id: rs1049496388
• gnomAD v2: 4-145480490-G-A
• gnomAD v3: 4-144559338-G-A
• gnomAD v4: 4-144559338-G-A
• MyVariant Identifiers: chr4:g.145480490G>A (hg19) ; chr4:g.144559338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559338G>A , CM000666.2:g.144559338G>A	GRCh38
NC_000004.11:g.145480490G>A , CM000666.1:g.145480490G>A	GRCh37
NC_000004.10:g.145699940G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143360C>T	ENSP00000497507.1:n.328-143360C>T
XR_939272.1:n.178+2646C>T
XR_939273.1:n.178+2646C>T
XR_939272.2:n.522+2646C>T
XR_939273.2:n.522+2646C>T