Canonical Allele Identifier: CA645509082

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 438098
• ClinVar RCV Id: RCV000504637 ; RCV001075246 ; RCV003558423
• dbSNP Id: rs1553188588
• gnomAD v3: 1-94021235-C-T
• gnomAD v4: 1-94021235-C-T
• MyVariant Identifiers: chr1:g.94486791C>T (hg19) ; chr1:g.94021235C>T (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021235C>T , CM000663.2:g.94021235C>T	GRCh38
NC_000001.10:g.94486791C>T , CM000663.1:g.94486791C>T	GRCh37
NC_000001.9:g.94259379C>T	NCBI36
NG_009073.1:g.104915G>A

Transcript Alleles

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