Canonical Allele Identifier: CA957691

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298241
• ClinVar RCV Id: RCV000285098 ; RCV000284073 ; RCV000342444 ; RCV000400653 ; RCV001098070 ; RCV002520512
• dbSNP Id: rs763857670
• ExAC: 1:94496611 G / A
• gnomAD v2: 1-94496611-G-A
• gnomAD v3: 1-94031055-G-A
• gnomAD v4: 1-94031055-G-A
• MyVariant Identifiers: chr1:g.94496611G>A (hg19) ; chr1:g.94031055G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94031055G>A , CM000663.2:g.94031055G>A	GRCh38
NC_000001.10:g.94496611G>A , CM000663.1:g.94496611G>A	GRCh37
NC_000001.9:g.94269199G>A	NCBI36
NG_009073.1:g.95095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4194C>T MANE Select	ENSP00000359245.3:p.Gly1398=
ENST00000370225.3:c.4194C>T	ENSP00000359245.3:p.Gly1398=
ENST00000536513.5:c.570C>T	ENSP00000439707.2:p.Gly190=
NM_000350.2:c.4194C>T	NP_000341.2:p.Gly1398=
NM_000350.3:c.4194C>T MANE Select	NP_000341.2:p.Gly1398=