Canonical Allele Identifier: CA341277595
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94001085-C-T
COSMIC: COSM5595651 COSM5595652
MyVariant Identifiers: chr1:g.94466641C>T (hg19) chr1:g.94001085C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001085C>T , CM000663.2:g.94001085C>T GRCh38
NC_000001.10:g.94466641C>T , CM000663.1:g.94466641C>T GRCh37
NC_000001.9:g.94239229C>T NCBI36
NG_009073.1:g.125065G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6303G>A MANE Select ENSP00000359245.3:p.Met2101Ile
ENST00000370225.3:c.6303G>A ENSP00000359245.3:p.Met2101Ile
ENST00000536513.5:c.2679G>A ENSP00000439707.2:p.Met893Ile
NM_000350.2:c.6303G>A NP_000341.2:p.Met2101Ile
NM_000350.3:c.6303G>A MANE Select NP_000341.2:p.Met2101Ile
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