Canonical Allele Identifier: CA2646651318

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94060780-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060780C>A , CM000663.2:g.94060780C>A	GRCh38
NC_000001.10:g.94526336C>A , CM000663.1:g.94526336C>A	GRCh37
NC_000001.9:g.94298924C>A	NCBI36
NG_009073.1:g.65370G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-21G>T MANE Select	ENSP00000359245.3:n.1938-21G>T
ENST00000649773.1:c.1938-21G>T	ENSP00000496882.1:n.1938-21G>T
ENST00000370225.3:c.1938-21G>T	ENSP00000359245.3:n.1938-21G>T
ENST00000472033.1:n.58-21G>T
ENST00000536513.5:c.-65+2394G>T	ENSP00000439707.2:n.-65+2394G>T
NM_000350.2:c.1938-21G>T	NP_000341.2:n.1938-21G>T
NM_000350.3:c.1938-21G>T MANE Select	NP_000341.2:n.1938-21G>T