Canonical Allele Identifier: CA440618949

Gene:

Linked Data

• gnomAD v4: 4-102500913-C-T
• MyVariant Identifiers: chr4:g.103422070C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102500913C>T , CM000666.2:g.102500913C>T	GRCh38
NC_000004.11:g.103422070C>T , CM000666.1:g.103422070C>T	GRCh37
NC_000004.10:g.103641102C>T	NCBI36
NG_050628.1:g.4585C>T

Transcript Alleles

HGVS	Amino-acid change
XM_011532467.1:c.643+336G>A	XP_011530769.1:n.643+336G>A
NR_136202.1:n.48+1526G>A