Canonical Allele Identifier: CA107748536

Gene:

Linked Data

• dbSNP Id: rs543710277
• gnomAD v3: 4-144559394-C-G
• gnomAD v4: 4-144559394-C-G
• MyVariant Identifiers: chr4:g.145480546C>G (hg19) ; chr4:g.144559394C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559394C>G , CM000666.2:g.144559394C>G	GRCh38
NC_000004.11:g.145480546C>G , CM000666.1:g.145480546C>G	GRCh37
NC_000004.10:g.145699996C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143416G>C	ENSP00000497507.1:n.328-143416G>C
XR_939272.1:n.178+2590G>C
XR_939273.1:n.178+2590G>C
XR_939272.2:n.522+2590G>C
XR_939273.2:n.522+2590G>C