Canonical Allele Identifier: CA958390

Gene: ABCA4

Linked Data

• dbSNP Id: rs779634080
• ExAC: 1:94528104 T / A
• gnomAD v2: 1-94528104-T-A
• gnomAD v4: 1-94062548-T-A
• MyVariant Identifiers: chr1:g.94528104T>A (hg19) ; chr1:g.94528104_94528107delinsAGGA (hg19) ; chr1:g.94062548T>A (hg38) ; chr1:g.94062548_94062551delinsAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062548T>A , CM000663.2:g.94062548T>A	GRCh38
NC_000001.10:g.94528104T>A , CM000663.1:g.94528104T>A	GRCh37
NC_000001.9:g.94300692T>A	NCBI36
NG_009073.1:g.63602A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+29A>T MANE Select	ENSP00000359245.3:n.1937+29A>T
ENST00000649773.1:c.1937+29A>T	ENSP00000496882.1:n.1937+29A>T
ENST00000370225.3:c.1937+29A>T	ENSP00000359245.3:n.1937+29A>T
ENST00000536513.5:c.-65+626A>T	ENSP00000439707.2:n.-65+626A>T
NM_000350.2:c.1937+29A>T	NP_000341.2:n.1937+29A>T
NM_000350.3:c.1937+29A>T MANE Select	NP_000341.2:n.1937+29A>T