Canonical Allele Identifier: CA1069047726

Gene:

Linked Data

• dbSNP Id: rs1733832141
• gnomAD v3: 4-144559841-T-C
• gnomAD v4: 4-144559841-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559841T>C , CM000666.2:g.144559841T>C	GRCh38
NC_000004.11:g.145480993T>C , CM000666.1:g.145480993T>C	GRCh37
NC_000004.10:g.145700443T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143863A>G	ENSP00000497507.1:n.328-143863A>G
XR_939272.1:n.178+2143A>G
XR_939273.1:n.178+2143A>G
XR_939272.2:n.522+2143A>G
XR_939273.2:n.522+2143A>G