Canonical Allele Identifier: CA958232
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs375460159
ExAC: 1:94517300 T / C
gnomAD v2: 1-94517300-T-C
gnomAD v3: 1-94051744-T-C
gnomAD v4: 1-94051744-T-C
MyVariant Identifiers: chr1:g.94517300T>C (hg19) chr1:g.94051744T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94051744T>C , CM000663.2:g.94051744T>C GRCh38
NC_000001.10:g.94517300T>C , CM000663.1:g.94517300T>C GRCh37
NC_000001.9:g.94289888T>C NCBI36
NG_009073.1:g.74406A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2588-46A>G MANE Select ENSP00000359245.3:n.2588-46A>G
ENST00000649773.1:c.2366-46A>G ENSP00000496882.1:n.2366-46A>G
ENST00000370225.3:c.2588-46A>G ENSP00000359245.3:n.2588-46A>G
ENST00000536513.5:c.-65+11430A>G ENSP00000439707.2:n.-65+11430A>G
NM_000350.2:c.2588-46A>G NP_000341.2:n.2588-46A>G
NM_000350.3:c.2588-46A>G MANE Select NP_000341.2:n.2588-46A>G
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