Canonical Allele Identifier: CA555415615

Gene:

Linked Data

• dbSNP Id: rs1381800692
• gnomAD v2: 4-145480819-G-C
• MyVariant Identifiers: chr4:g.145480819G>C (hg19) ; chr4:g.144559667G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559667G>C , CM000666.2:g.144559667G>C	GRCh38
NC_000004.11:g.145480819G>C , CM000666.1:g.145480819G>C	GRCh37
NC_000004.10:g.145700269G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143689C>G	ENSP00000497507.1:n.328-143689C>G
XR_939272.1:n.178+2317C>G
XR_939273.1:n.178+2317C>G
XR_939272.2:n.522+2317C>G
XR_939273.2:n.522+2317C>G