Canonical Allele Identifier: CA26845035
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1479699
ClinVar RCV Id: RCV001976899
dbSNP Id: rs919216834
gnomAD v2: 1-94487237-G-A
gnomAD v3: 1-94021681-G-A
gnomAD v4: 1-94021681-G-A
MyVariant Identifiers: chr1:g.94487237G>A (hg19) chr1:g.94021681G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021681G>A , CM000663.2:g.94021681G>A GRCh38
NC_000001.10:g.94487237G>A , CM000663.1:g.94487237G>A GRCh37
NC_000001.9:g.94259825G>A NCBI36
NG_009073.1:g.104469C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4807C>T MANE Select ENSP00000359245.3:p.Pro1603Ser
ENST00000370225.3:c.4807C>T ENSP00000359245.3:p.Pro1603Ser
ENST00000460514.1:n.301C>T
ENST00000536513.5:c.1183C>T ENSP00000439707.2:p.Pro395Ser
NM_000350.2:c.4807C>T NP_000341.2:p.Pro1603Ser
NM_000350.3:c.4807C>T MANE Select NP_000341.2:p.Pro1603Ser
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