Canonical Allele Identifier: CA341279315
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94062625-A-T
MyVariant Identifiers: chr1:g.94528181A>T (hg19) chr1:g.94062625A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062625A>T , CM000663.2:g.94062625A>T GRCh38
NC_000001.10:g.94528181A>T , CM000663.1:g.94528181A>T GRCh37
NC_000001.9:g.94300769A>T NCBI36
NG_009073.1:g.63525T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1889T>A MANE Select ENSP00000359245.3:p.Val630Asp
ENST00000649773.1:c.1889T>A ENSP00000496882.1:p.Val630Asp
ENST00000370225.3:c.1889T>A ENSP00000359245.3:p.Val630Asp
ENST00000536513.5:c.-65+549T>A ENSP00000439707.2:n.-65+549T>A
NM_000350.2:c.1889T>A NP_000341.2:p.Val630Asp
NM_000350.3:c.1889T>A MANE Select NP_000341.2:p.Val630Asp
Search 100 bp 5'
Search 100 bp 3'