Canonical Allele Identifier: CA103120457

Gene:

Linked Data

• dbSNP Id: rs952321825
• gnomAD v2: 4-103422330-G-A
• gnomAD v3: 4-102501173-G-A
• gnomAD v4: 4-102501173-G-A
• MyVariant Identifiers: chr4:g.103422330G>A (hg19) ; chr4:g.102501173G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501173G>A , CM000666.2:g.102501173G>A	GRCh38
NC_000004.11:g.103422330G>A , CM000666.1:g.103422330G>A	GRCh37
NC_000004.10:g.103641362G>A	NCBI36
NG_050628.1:g.4845G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+76C>T	XP_011530769.1:n.643+76C>T
NR_136202.1:n.48+1266C>T