Canonical Allele Identifier: CA1138669038

Gene:

Linked Data

• gnomAD v3: Y-2789301-T-C
• gnomAD v4: Y-2789301-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2789301T>C , CM000686.2:g.2789301T>C	GRCh38
NC_000024.9:g.2657342T>C , CM000686.1:g.2657342T>C	GRCh37
NC_000024.8:g.2717342T>C	NCBI36
NG_011751.1:g.3451A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+14562T>C
ENST00000680285.1:n.320-448T>C
ENST00000681787.1:n.106+14562T>C
ENST00000681940.1:n.106+14562T>C