Canonical Allele Identifier: CA957663

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298239
• ClinVar RCV Id: RCV000306201 ; RCV000358611 ; RCV000345844 ; RCV000408394 ; RCV000603618 ; RCV001074568 ; RCV001098066 ; RCV001515591
• dbSNP Id: rs142673376
• ExAC: 1:94496080 A / G
• gnomAD v2: 1-94496080-A-G
• gnomAD v3: 1-94030524-A-G
• gnomAD v4: 1-94030524-A-G
• MyVariant Identifiers: chr1:g.94496080A>G (hg19) ; chr1:g.94030524A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030524A>G , CM000663.2:g.94030524A>G	GRCh38
NC_000001.10:g.94496080A>G , CM000663.1:g.94496080A>G	GRCh37
NC_000001.9:g.94268668A>G	NCBI36
NG_009073.1:g.95626T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4256T>C MANE Select	ENSP00000359245.3:p.Met1419Thr
ENST00000370225.3:c.4256T>C	ENSP00000359245.3:p.Met1419Thr
ENST00000536513.5:c.632T>C	ENSP00000439707.2:p.Met211Thr
NM_000350.2:c.4256T>C	NP_000341.2:p.Met1419Thr
NM_000350.3:c.4256T>C MANE Select	NP_000341.2:p.Met1419Thr