Canonical Allele Identifier: CA958124

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 236096
• ClinVar RCV Id: RCV000413621 ; RCV000408500 ; RCV000787490 ; RCV000787770 ; RCV000787491 ; RCV000787492 ; RCV001074886
• dbSNP Id: rs201471607
• ExAC: 1:94512499 T / C
• gnomAD v2: 1-94512499-T-C
• gnomAD v3: 1-94046943-T-C
• gnomAD v4: 1-94046943-T-C
• MyVariant Identifiers: chr1:g.94512499T>C (hg19) ; chr1:g.94046943T>C (hg38)
• PubMed: PMID:9054934 ; PMID:22968130 ; PMID:24453473 ; PMID:24713488 ; PMID:25356976 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046943T>C , CM000663.2:g.94046943T>C	GRCh38
NC_000001.10:g.94512499T>C , CM000663.1:g.94512499T>C	GRCh37
NC_000001.9:g.94285087T>C	NCBI36
NG_009073.1:g.79207A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2894A>G MANE Select	ENSP00000359245.3:p.Asn965Ser
ENST00000649773.1:c.2672A>G	ENSP00000496882.1:p.Asn891Ser
ENST00000370225.3:c.2894A>G	ENSP00000359245.3:p.Asn965Ser
ENST00000536513.5:c.-64-6854A>G	ENSP00000439707.2:n.-64-6854A>G
NM_000350.2:c.2894A>G	NP_000341.2:p.Asn965Ser
NM_000350.3:c.2894A>G MANE Select	NP_000341.2:p.Asn965Ser