Canonical Allele Identifier: CA1138669037

Gene:

Linked Data

• gnomAD v3: Y-2789292-C-T
• gnomAD v4: Y-2789292-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2789292C>T , CM000686.2:g.2789292C>T	GRCh38
NC_000024.9:g.2657333C>T , CM000686.1:g.2657333C>T	GRCh37
NC_000024.8:g.2717333C>T	NCBI36
NG_011751.1:g.3460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+14553C>T
ENST00000680285.1:n.320-457C>T
ENST00000681787.1:n.106+14553C>T
ENST00000681940.1:n.106+14553C>T