Canonical Allele Identifier: CA957426
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3009334
ClinVar RCV Id: RCV003869485
dbSNP Id: rs199775401
ExAC: 1:94486885 C / G
gnomAD v2: 1-94486885-C-G
gnomAD v3: 1-94021329-C-G
gnomAD v4: 1-94021329-C-G
MyVariant Identifiers: chr1:g.94486885C>G (hg19) chr1:g.94021329C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021329C>G , CM000663.2:g.94021329C>G GRCh38
NC_000001.10:g.94486885C>G , CM000663.1:g.94486885C>G GRCh37
NC_000001.9:g.94259473C>G NCBI36
NG_009073.1:g.104821G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4929G>C MANE Select ENSP00000359245.3:p.Leu1643=
ENST00000370225.3:c.4929G>C ENSP00000359245.3:p.Leu1643=
ENST00000460514.1:n.423G>C
ENST00000470771.1:n.39G>C
ENST00000536513.5:c.1305G>C ENSP00000439707.2:p.Leu435=
NM_000350.2:c.4929G>C NP_000341.2:p.Leu1643=
NM_000350.3:c.4929G>C MANE Select NP_000341.2:p.Leu1643=
Search 100 bp 5'
Search 100 bp 3'