Canonical Allele Identifier: CA341286491
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 857770
ClinVar RCV Id: RCV001063512
dbSNP Id: rs1660190269
gnomAD v4: 1-94031113-A-G
MyVariant Identifiers: chr1:g.94496669A>G (hg19) chr1:g.94031113A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031113A>G , CM000663.2:g.94031113A>G GRCh38
NC_000001.10:g.94496669A>G , CM000663.1:g.94496669A>G GRCh37
NC_000001.9:g.94269257A>G NCBI36
NG_009073.1:g.95037T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4136T>C MANE Select ENSP00000359245.3:p.Leu1379Pro
ENST00000370225.3:c.4136T>C ENSP00000359245.3:p.Leu1379Pro
ENST00000536513.5:c.512T>C ENSP00000439707.2:p.Leu171Pro
NM_000350.2:c.4136T>C NP_000341.2:p.Leu1379Pro
NM_000350.3:c.4136T>C MANE Select NP_000341.2:p.Leu1379Pro
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