Canonical Allele Identifier: CA129033

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 7904
• ClinVar RCV Id: RCV000008362 ; RCV000023139 ; RCV000078666 ; RCV000454310 ; RCV000763044 ; RCV000778258 ; RCV000787498 ; RCV001075868
• dbSNP Id: rs61750130
• ExAC: 1:94496666 G / A
• gnomAD v2: 1-94496666-G-A
• gnomAD v3: 1-94031110-G-A
• gnomAD v4: 1-94031110-G-A
• MyVariant Identifiers: chr1:g.94496666G>A (hg19) ; chr1:g.94031110G>A (hg38)
• PubMed: PMID:9973280 ; PMID:10396622 ; PMID:16682602 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94031110G>A , CM000663.2:g.94031110G>A	GRCh38
NC_000001.10:g.94496666G>A , CM000663.1:g.94496666G>A	GRCh37
NC_000001.9:g.94269254G>A	NCBI36
NG_009073.1:g.95040C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4139C>T MANE Select	ENSP00000359245.3:p.Pro1380Leu
ENST00000370225.3:c.4139C>T	ENSP00000359245.3:p.Pro1380Leu
ENST00000536513.5:c.515C>T	ENSP00000439707.2:p.Pro172Leu
NM_000350.2:c.4139C>T	NP_000341.2:p.Pro1380Leu
NM_000350.3:c.4139C>T MANE Select	NP_000341.2:p.Pro1380Leu