Canonical Allele Identifier: CA553749101

Gene:

Linked Data

• dbSNP Id: rs1321528277
• gnomAD v2: 4-103421042-T-C
• gnomAD v3: 4-102499885-T-C
• gnomAD v4: 4-102499885-T-C
• MyVariant Identifiers: chr4:g.103421042T>C (hg19) ; chr4:g.102499885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499885T>C , CM000666.2:g.102499885T>C	GRCh38
NC_000004.11:g.103421042T>C , CM000666.1:g.103421042T>C	GRCh37
NC_000004.10:g.103640074T>C	NCBI36
NG_050628.1:g.3557T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1364A>G	XP_011530769.1:n.643+1364A>G
NR_136202.1:n.48+2554A>G