Canonical Allele Identifier: CA2589255121

Gene:

Linked Data

• gnomAD v3: Y-2818513-C-T
• gnomAD v4: Y-2818513-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2818513C>T , CM000686.2:g.2818513C>T	GRCh38
NC_000024.9:g.2686554C>T , CM000686.1:g.2686554C>T	GRCh37
NC_000024.8:g.2746554C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.107-22973C>T
ENST00000681787.1:n.107-22515C>T
ENST00000681940.1:n.107-27133C>T