Canonical Allele Identifier: CA957487
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 236122
ClinVar RCV Id: RCV000408554 RCV000425309 RCV000787761
dbSNP Id: rs759672616
ExAC: 1:94487399 T / C
gnomAD v2: 1-94487399-T-C
gnomAD v3: 1-94021843-T-C
gnomAD v4: 1-94021843-T-C
MyVariant Identifiers: chr1:g.94487399T>C (hg19) chr1:g.94021843T>C (hg38)
PubMed: PMID:22229821 PMID:23443024 PMID:23918662 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021843T>C , CM000663.2:g.94021843T>C GRCh38
NC_000001.10:g.94487399T>C , CM000663.1:g.94487399T>C GRCh37
NC_000001.9:g.94259987T>C NCBI36
NG_009073.1:g.104307A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4773+3A>G MANE Select ENSP00000359245.3:n.4773+3A>G
ENST00000370225.3:c.4773+3A>G ENSP00000359245.3:n.4773+3A>G
ENST00000460514.1:n.267+3A>G
ENST00000536513.5:c.1149+3A>G ENSP00000439707.2:n.1149+3A>G
NM_000350.2:c.4773+3A>G NP_000341.2:n.4773+3A>G
NM_000350.3:c.4773+3A>G MANE Select NP_000341.2:n.4773+3A>G
Search 100 bp 5'
Search 100 bp 3'