Canonical Allele Identifier: CA2646644973

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94000958-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94000958G>C , CM000663.2:g.94000958G>C	GRCh38
NC_000001.10:g.94466514G>C , CM000663.1:g.94466514G>C	GRCh37
NC_000001.9:g.94239102G>C	NCBI36
NG_009073.1:g.125192C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6387-30C>G MANE Select	ENSP00000359245.3:n.6387-30C>G
ENST00000370225.3:c.6387-30C>G	ENSP00000359245.3:n.6387-30C>G
ENST00000536513.5:c.2763-30C>G	ENSP00000439707.2:n.2763-30C>G
NM_000350.2:c.6387-30C>G	NP_000341.2:n.6387-30C>G
NM_000350.3:c.6387-30C>G MANE Select	NP_000341.2:n.6387-30C>G