Canonical Allele Identifier: CA26847842

Gene: ABCA4

Linked Data

• dbSNP Id: rs986554637
• gnomAD v2: 1-94528087-C-A
• gnomAD v3: 1-94062531-C-A
• gnomAD v4: 1-94062531-C-A
• MyVariant Identifiers: chr1:g.94528087C>A (hg19) ; chr1:g.94062531C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062531C>A , CM000663.2:g.94062531C>A	GRCh38
NC_000001.10:g.94528087C>A , CM000663.1:g.94528087C>A	GRCh37
NC_000001.9:g.94300675C>A	NCBI36
NG_009073.1:g.63619G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+46G>T MANE Select	ENSP00000359245.3:n.1937+46G>T
ENST00000649773.1:c.1937+46G>T	ENSP00000496882.1:n.1937+46G>T
ENST00000370225.3:c.1937+46G>T	ENSP00000359245.3:n.1937+46G>T
ENST00000536513.5:c.-65+643G>T	ENSP00000439707.2:n.-65+643G>T
NM_000350.2:c.1937+46G>T	NP_000341.2:n.1937+46G>T
NM_000350.3:c.1937+46G>T MANE Select	NP_000341.2:n.1937+46G>T