Canonical Allele Identifier: CA341283116
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3027721
ClinVar RCV Id: RCV003890975
gnomAD v4: 1-94021351-T-C
MyVariant Identifiers: chr1:g.94486907T>C (hg19) chr1:g.94021351T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021351T>C , CM000663.2:g.94021351T>C GRCh38
NC_000001.10:g.94486907T>C , CM000663.1:g.94486907T>C GRCh37
NC_000001.9:g.94259495T>C NCBI36
NG_009073.1:g.104799A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4907A>G MANE Select ENSP00000359245.3:p.Asn1636Ser
ENST00000370225.3:c.4907A>G ENSP00000359245.3:p.Asn1636Ser
ENST00000460514.1:n.401A>G
ENST00000470771.1:n.17A>G
ENST00000536513.5:c.1283A>G ENSP00000439707.2:p.Asn428Ser
NM_000350.2:c.4907A>G NP_000341.2:p.Asn1636Ser
NM_000350.3:c.4907A>G MANE Select NP_000341.2:p.Asn1636Ser
Search 100 bp 5'
Search 100 bp 3'