Canonical Allele Identifier: CA1069047727

Gene:

Linked Data

• dbSNP Id: rs1733832186
• gnomAD v3: 4-144559843-C-T
• gnomAD v4: 4-144559843-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559843C>T , CM000666.2:g.144559843C>T	GRCh38
NC_000004.11:g.145480995C>T , CM000666.1:g.145480995C>T	GRCh37
NC_000004.10:g.145700445C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143865G>A	ENSP00000497507.1:n.328-143865G>A
XR_939272.1:n.178+2141G>A
XR_939273.1:n.178+2141G>A
XR_939272.2:n.522+2141G>A
XR_939273.2:n.522+2141G>A