Canonical Allele Identifier: CA740459515

Gene: ABCA4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94067458T>G , CM000663.2:g.94067458T>G	GRCh38
NC_000001.10:g.94533014T>G , CM000663.1:g.94533014T>G	GRCh37
NC_000001.9:g.94305602T>G	NCBI36
NG_009073.1:g.58692A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1555-4141A>C MANE Select	ENSP00000359245.3:n.1555-4141A>C
ENST00000649773.1:c.1555-4141A>C	ENSP00000496882.1:n.1555-4141A>C
ENST00000370225.3:c.1555-4141A>C	ENSP00000359245.3:n.1555-4141A>C
NM_000350.2:c.1555-4141A>C	NP_000341.2:n.1555-4141A>C
NM_000350.3:c.1555-4141A>C MANE Select	NP_000341.2:n.1555-4141A>C