Canonical Allele Identifier: CA2646645498

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94002132-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94002132C>A , CM000663.2:g.94002132C>A	GRCh38
NC_000001.10:g.94467688C>A , CM000663.1:g.94467688C>A	GRCh37
NC_000001.9:g.94240276C>A	NCBI36
NG_009073.1:g.124018G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6148-140G>T MANE Select	ENSP00000359245.3:n.6148-140G>T
ENST00000370225.3:c.6148-140G>T	ENSP00000359245.3:n.6148-140G>T
ENST00000465352.1:n.564-140G>T
ENST00000536513.5:c.2524-140G>T	ENSP00000439707.2:n.2524-140G>T
NM_000350.2:c.6148-140G>T	NP_000341.2:n.6148-140G>T
NM_000350.3:c.6148-140G>T MANE Select	NP_000341.2:n.6148-140G>T