Canonical Allele Identifier: CA341279271
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94062604-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062604A>G , CM000663.2:g.94062604A>G GRCh38
NC_000001.10:g.94528160A>G , CM000663.1:g.94528160A>G GRCh37
NC_000001.9:g.94300748A>G NCBI36
NG_009073.1:g.63546T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1910T>C MANE Select ENSP00000359245.3:p.Met637Thr
ENST00000649773.1:c.1910T>C ENSP00000496882.1:p.Met637Thr
ENST00000370225.3:c.1910T>C ENSP00000359245.3:p.Met637Thr
ENST00000536513.5:c.-65+570T>C ENSP00000439707.2:n.-65+570T>C
NM_000350.2:c.1910T>C NP_000341.2:p.Met637Thr
NM_000350.3:c.1910T>C MANE Select NP_000341.2:p.Met637Thr