Canonical Allele Identifier: CA337437918
Gene:

Linked Data

dbSNP Id: rs769619586
gnomAD v3: Y-2789206-G-A
gnomAD v4: Y-2789206-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2789206G>A , CM000686.2:g.2789206G>A GRCh38
NC_000024.9:g.2657247G>A , CM000686.1:g.2657247G>A GRCh37
NC_000024.8:g.2717247G>A NCBI36
NG_011751.1:g.3546C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+14467G>A
ENST00000680285.1:n.320-543G>A
ENST00000681787.1:n.106+14467G>A
ENST00000681940.1:n.106+14467G>A