Canonical Allele Identifier: CA341285377
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94111456-G-T
MyVariant Identifiers: chr1:g.94577012G>T (hg19) chr1:g.94111456G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111456G>T , CM000663.2:g.94111456G>T GRCh38
NC_000001.10:g.94577012G>T , CM000663.1:g.94577012G>T GRCh37
NC_000001.9:g.94349600G>T NCBI36
NG_009073.1:g.14694C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.284C>A MANE Select ENSP00000359245.3:p.Ser95Ter
ENST00000649773.1:c.284C>A ENSP00000496882.1:p.Ser95Ter
ENST00000370225.3:c.284C>A ENSP00000359245.3:p.Ser95Ter
NM_000350.2:c.284C>A NP_000341.2:p.Ser95Ter
NM_000350.3:c.284C>A MANE Select NP_000341.2:p.Ser95Ter
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