Canonical Allele Identifier: CA103120269

Gene:

Linked Data

• dbSNP Id: rs1052506399
• gnomAD v3: 4-102499780-T-C
• gnomAD v4: 4-102499780-T-C
• MyVariant Identifiers: chr4:g.103420937T>C (hg19) ; chr4:g.102499780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499780T>C , CM000666.2:g.102499780T>C	GRCh38
NC_000004.11:g.103420937T>C , CM000666.1:g.103420937T>C	GRCh37
NC_000004.10:g.103639969T>C	NCBI36
NG_050628.1:g.3452T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1469A>G	XP_011530769.1:n.643+1469A>G
NR_136202.1:n.48+2659A>G