Canonical Allele Identifier: CA1069047707

Gene:

Linked Data

• dbSNP Id: rs1733830528
• gnomAD v3: 4-144559743-T-G
• gnomAD v4: 4-144559743-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559743T>G , CM000666.2:g.144559743T>G	GRCh38
NC_000004.11:g.145480895T>G , CM000666.1:g.145480895T>G	GRCh37
NC_000004.10:g.145700345T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143765A>C	ENSP00000497507.1:n.328-143765A>C
XR_939272.1:n.178+2241A>C
XR_939273.1:n.178+2241A>C
XR_939272.2:n.522+2241A>C
XR_939273.2:n.522+2241A>C