Canonical Allele Identifier: CA2646653595

Gene: ABCA4

Linked Data

• dbSNP Id: rs766433374
• gnomAD v4: 1-94111363-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111363C>T , CM000663.2:g.94111363C>T	GRCh38
NC_000001.10:g.94576919C>T , CM000663.1:g.94576919C>T	GRCh37
NC_000001.9:g.94349507C>T	NCBI36
NG_009073.1:g.14787G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.302+75G>A MANE Select	ENSP00000359245.3:n.302+75G>A
ENST00000649773.1:c.302+75G>A	ENSP00000496882.1:n.302+75G>A
ENST00000370225.3:c.302+75G>A	ENSP00000359245.3:n.302+75G>A
NM_000350.2:c.302+75G>A	NP_000341.2:n.302+75G>A
NM_000350.3:c.302+75G>A MANE Select	NP_000341.2:n.302+75G>A