Canonical Allele Identifier: CA227264

Gene: ABCA4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021238A>G , CM000663.2:g.94021238A>G	GRCh38
NC_000001.10:g.94486794A>G , CM000663.1:g.94486794A>G	GRCh37
NC_000001.9:g.94259382A>G	NCBI36
NG_009073.1:g.104912T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5018+2T>C MANE Select	ENSP00000359245.3:n.5018+2T>C
ENST00000370225.3:c.5018+2T>C	ENSP00000359245.3:n.5018+2T>C
ENST00000460514.1:n.512+2T>C
ENST00000470771.1:n.128+2T>C
ENST00000536513.5:c.1394+2T>C	ENSP00000439707.2:n.1394+2T>C
NM_000350.2:c.5018+2T>C	NP_000341.2:n.5018+2T>C
NM_000350.3:c.5018+2T>C MANE Select	NP_000341.2:n.5018+2T>C