Canonical Allele Identifier: CA107748665

Gene:

Linked Data

• dbSNP Id: rs527801449
• gnomAD v2: 4-145480658-C-T
• gnomAD v3: 4-144559506-C-T
• gnomAD v4: 4-144559506-C-T
• MyVariant Identifiers: chr4:g.145480658C>T (hg19) ; chr4:g.144559506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559506C>T , CM000666.2:g.144559506C>T	GRCh38
NC_000004.11:g.145480658C>T , CM000666.1:g.145480658C>T	GRCh37
NC_000004.10:g.145700108C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143528G>A	ENSP00000497507.1:n.328-143528G>A
XR_939272.1:n.178+2478G>A
XR_939273.1:n.178+2478G>A
XR_939272.2:n.522+2478G>A
XR_939273.2:n.522+2478G>A