Canonical Allele Identifier: CA553749096

Gene:

Linked Data

• dbSNP Id: rs1015484245
• gnomAD v2: 4-103421002-C-T
• gnomAD v3: 4-102499845-C-T
• gnomAD v4: 4-102499845-C-T
• MyVariant Identifiers: chr4:g.103421002C>T (hg19) ; chr4:g.102499845C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499845C>T , CM000666.2:g.102499845C>T	GRCh38
NC_000004.11:g.103421002C>T , CM000666.1:g.103421002C>T	GRCh37
NC_000004.10:g.103640034C>T	NCBI36
NG_050628.1:g.3517C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1404G>A	XP_011530769.1:n.643+1404G>A
NR_136202.1:n.48+2594G>A