Canonical Allele Identifier: CA1139002121

Gene:

Linked Data

• gnomAD v3: Y-7680958-T-G
• gnomAD v4: Y-7680958-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7680958T>G , CM000686.2:g.7680958T>G	GRCh38
NC_000024.9:g.7548999T>G , CM000686.1:g.7548999T>G	GRCh37
NC_000024.8:g.7608999T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000439805.1:n.617-25T>G