Canonical Allele Identifier: CA957349

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298229
• ClinVar RCV Id: RCV000275813 ; RCV000315617 ; RCV000330641 ; RCV000354180 ; RCV001099768 ; RCV001850573
• dbSNP Id: rs758825834
• ExAC: 1:94481414 G / A
• gnomAD v2: 1-94481414-G-A
• gnomAD v3: 1-94015858-G-A
• gnomAD v4: 1-94015858-G-A
• COSMIC: COSM3769040
• MyVariant Identifiers: chr1:g.94481414G>A (hg19) ; chr1:g.94015858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94015858G>A , CM000663.2:g.94015858G>A	GRCh38
NC_000001.10:g.94481414G>A , CM000663.1:g.94481414G>A	GRCh37
NC_000001.9:g.94254002G>A	NCBI36
NG_009073.1:g.110292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5197-4C>T MANE Select	ENSP00000359245.3:n.5197-4C>T
ENST00000370225.3:c.5197-4C>T	ENSP00000359245.3:n.5197-4C>T
ENST00000536513.5:c.1573-4C>T	ENSP00000439707.2:n.1573-4C>T
NM_000350.2:c.5197-4C>T	NP_000341.2:n.5197-4C>T
NM_000350.3:c.5197-4C>T MANE Select	NP_000341.2:n.5197-4C>T