Canonical Allele Identifier: CA958885
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 265007
ClinVar RCV Id: RCV000254775 RCV001075836
dbSNP Id: rs145133167
ExAC: 1:94577002 G / C
gnomAD v2: 1-94577002-G-C
gnomAD v3: 1-94111446-G-C
gnomAD v4: 1-94111446-G-C
MyVariant Identifiers: chr1:g.94577002G>C (hg19) chr1:g.94111446G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111446G>C , CM000663.2:g.94111446G>C GRCh38
NC_000001.10:g.94577002G>C , CM000663.1:g.94577002G>C GRCh37
NC_000001.9:g.94349590G>C NCBI36
NG_009073.1:g.14704C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.294C>G MANE Select ENSP00000359245.3:p.Asn98Lys
ENST00000649773.1:c.294C>G ENSP00000496882.1:p.Asn98Lys
ENST00000370225.3:c.294C>G ENSP00000359245.3:p.Asn98Lys
NM_000350.2:c.294C>G NP_000341.2:p.Asn98Lys
NM_000350.3:c.294C>G MANE Select NP_000341.2:p.Asn98Lys
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