Canonical Allele Identifier: CA179692

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99035
• ClinVar RCV Id: RCV000085378 ; RCV000152707 ; RCV001074409 ; RCV002513925 ; RCV003398695
• dbSNP Id: rs61748550
• ExAC: 1:94544895 G / A
• gnomAD v2: 1-94544895-G-A
• gnomAD v3: 1-94079339-G-A
• gnomAD v4: 1-94079339-G-A
• COSMIC: COSM4409531 ; COSM4409532
• MyVariant Identifiers: chr1:g.94544895G>A (hg19) ; chr1:g.94079339G>A (hg38)
• PubMed: PMID:11846518 ; PMID:16103129 ; PMID:23755871 ; PMID:23891399 ; PMID:25525159 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94079339G>A , CM000663.2:g.94079339G>A	GRCh38
NC_000001.10:g.94544895G>A , CM000663.1:g.94544895G>A	GRCh37
NC_000001.9:g.94317483G>A	NCBI36
NG_009073.1:g.46811C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1222C>T MANE Select	ENSP00000359245.3:p.Arg408Ter
ENST00000649773.1:c.1222C>T	ENSP00000496882.1:p.Arg408Ter
ENST00000370225.3:c.1222C>T	ENSP00000359245.3:p.Arg408Ter
NM_000350.2:c.1222C>T	NP_000341.2:p.Arg408Ter
NM_000350.3:c.1222C>T MANE Select	NP_000341.2:p.Arg408Ter