Canonical Allele Identifier: CA524383997
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs576011304
gnomAD v2: 1-94496265-T-G
gnomAD v3: 1-94030709-T-G
gnomAD v4: 1-94030709-T-G
MyVariant Identifiers: chr1:g.94496265T>G (hg19) chr1:g.94030709T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030709T>G , CM000663.2:g.94030709T>G GRCh38
NC_000001.10:g.94496265T>G , CM000663.1:g.94496265T>G GRCh37
NC_000001.9:g.94268853T>G NCBI36
NG_009073.1:g.95441A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4254-183A>C MANE Select ENSP00000359245.3:n.4254-183A>C
ENST00000370225.3:c.4254-183A>C ENSP00000359245.3:n.4254-183A>C
ENST00000536513.5:c.630-183A>C ENSP00000439707.2:n.630-183A>C
NM_000350.2:c.4254-183A>C NP_000341.2:n.4254-183A>C
NM_000350.3:c.4254-183A>C MANE Select NP_000341.2:n.4254-183A>C
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