Canonical Allele Identifier: CA958582

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298263
• ClinVar RCV Id: RCV000262287 ; RCV000319666 ; RCV000354740 ; RCV000367371 ; RCV000971845 ; RCV001096638
• dbSNP Id: rs185225547
• ExAC: 1:94544270 C / G
• gnomAD v2: 1-94544270-C-G
• gnomAD v3: 1-94078714-C-G
• gnomAD v4: 1-94078714-C-G
• MyVariant Identifiers: chr1:g.94544270C>G (hg19) ; chr1:g.94078714C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94078714C>G , CM000663.2:g.94078714C>G	GRCh38
NC_000001.10:g.94544270C>G , CM000663.1:g.94544270C>G	GRCh37
NC_000001.9:g.94316858C>G	NCBI36
NG_009073.1:g.47436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1240-8G>C MANE Select	ENSP00000359245.3:n.1240-8G>C
ENST00000649773.1:c.1240-8G>C	ENSP00000496882.1:n.1240-8G>C
ENST00000370225.3:c.1240-8G>C	ENSP00000359245.3:n.1240-8G>C
NM_000350.2:c.1240-8G>C	NP_000341.2:n.1240-8G>C
NM_000350.3:c.1240-8G>C MANE Select	NP_000341.2:n.1240-8G>C