Canonical Allele Identifier: CA26847793

Gene: ABCA4

Linked Data

• dbSNP Id: rs189709469
• gnomAD v2: 1-94528021-T-C
• gnomAD v3: 1-94062465-T-C
• gnomAD v4: 1-94062465-T-C
• MyVariant Identifiers: chr1:g.94528021T>C (hg19) ; chr1:g.94062465T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062465T>C , CM000663.2:g.94062465T>C	GRCh38
NC_000001.10:g.94528021T>C , CM000663.1:g.94528021T>C	GRCh37
NC_000001.9:g.94300609T>C	NCBI36
NG_009073.1:g.63685A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+112A>G MANE Select	ENSP00000359245.3:n.1937+112A>G
ENST00000649773.1:c.1937+112A>G	ENSP00000496882.1:n.1937+112A>G
ENST00000370225.3:c.1937+112A>G	ENSP00000359245.3:n.1937+112A>G
ENST00000536513.5:c.-65+709A>G	ENSP00000439707.2:n.-65+709A>G
NM_000350.2:c.1937+112A>G	NP_000341.2:n.1937+112A>G
NM_000350.3:c.1937+112A>G MANE Select	NP_000341.2:n.1937+112A>G