Canonical Allele Identifier: CA440620485

Gene:

Linked Data

• gnomAD v4: 4-102501264-C-A
• MyVariant Identifiers: chr4:g.103422421C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501264C>A , CM000666.2:g.102501264C>A	GRCh38
NC_000004.11:g.103422421C>A , CM000666.1:g.103422421C>A	GRCh37
NC_000004.10:g.103641453C>A	NCBI36
NG_050628.1:g.4936C>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.628G>T	XP_011530769.1:p.Ala210Ser
NR_136202.1:n.48+1175G>T