Canonical Allele Identifier: CA1139002078

Gene:

Linked Data

• gnomAD v3: Y-7680896-G-T
• gnomAD v4: Y-7680896-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7680896G>T , CM000686.2:g.7680896G>T	GRCh38
NC_000024.9:g.7548937G>T , CM000686.1:g.7548937G>T	GRCh37
NC_000024.8:g.7608937G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000439805.1:n.616+32G>T