Canonical Allele Identifier: CA958396

Gene: ABCA4

Linked Data

• dbSNP Id: rs548888187
• ExAC: 1:94528133 G / A
• gnomAD v2: 1-94528133-G-A
• gnomAD v3: 1-94062577-G-A
• gnomAD v4: 1-94062577-G-A
• COSMIC: COSM913460 ; COSM4870540
• MyVariant Identifiers: chr1:g.94528133G>A (hg19) ; chr1:g.94062577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062577G>A , CM000663.2:g.94062577G>A	GRCh38
NC_000001.10:g.94528133G>A , CM000663.1:g.94528133G>A	GRCh37
NC_000001.9:g.94300721G>A	NCBI36
NG_009073.1:g.63573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937C>T MANE Select	ENSP00000359245.3:p.Ser646Phe
ENST00000649773.1:c.1937C>T	ENSP00000496882.1:p.Ser646Phe
ENST00000370225.3:c.1937C>T	ENSP00000359245.3:p.Ser646Phe
ENST00000536513.5:c.-65+597C>T	ENSP00000439707.2:n.-65+597C>T
NM_000350.2:c.1937C>T	NP_000341.2:p.Ser646Phe
NM_000350.3:c.1937C>T MANE Select	NP_000341.2:p.Ser646Phe