Canonical Allele Identifier: CA341280671

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 438088
• ClinVar RCV Id: RCV000504738 ; RCV000504926
• dbSNP Id: rs1553192726
• gnomAD v4: 1-94063315-G-T
• MyVariant Identifiers: chr1:g.94528871G>T (hg19) ; chr1:g.94063315G>T (hg38)
• PubMed: PMID:25312043 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94063315G>T , CM000663.2:g.94063315G>T	GRCh38
NC_000001.10:g.94528871G>T , CM000663.1:g.94528871G>T	GRCh37
NC_000001.9:g.94301459G>T	NCBI36
NG_009073.1:g.62835C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1557C>A MANE Select	ENSP00000359245.3:p.Cys519Ter
ENST00000649773.1:c.1557C>A	ENSP00000496882.1:p.Cys519Ter
ENST00000370225.3:c.1557C>A	ENSP00000359245.3:p.Cys519Ter
NM_000350.2:c.1557C>A	NP_000341.2:p.Cys519Ter
NM_000350.3:c.1557C>A MANE Select	NP_000341.2:p.Cys519Ter