Canonical Allele Identifier: CA341275294

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94512481G>C (hg19) ; chr1:g.94046925G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046925G>C , CM000663.2:g.94046925G>C	GRCh38
NC_000001.10:g.94512481G>C , CM000663.1:g.94512481G>C	GRCh37
NC_000001.9:g.94285069G>C	NCBI36
NG_009073.1:g.79225C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2912C>G MANE Select	ENSP00000359245.3:p.Thr971Ser
ENST00000649773.1:c.2690C>G	ENSP00000496882.1:p.Thr897Ser
ENST00000370225.3:c.2912C>G	ENSP00000359245.3:p.Thr971Ser
ENST00000536513.5:c.-64-6836C>G	ENSP00000439707.2:n.-64-6836C>G
NM_000350.2:c.2912C>G	NP_000341.2:p.Thr971Ser
NM_000350.3:c.2912C>G MANE Select	NP_000341.2:p.Thr971Ser