Canonical Allele Identifier: CA1593701

Linked Data

dbSNP Id: rs764053092
gnomAD v2: 2-29420451-T-C
gnomAD v3: 2-29197585-T-C
gnomAD v4: 2-29197585-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29197585T>C , CM000664.2:g.29197585T>C GRCh38
NC_000002.11:g.29420451T>C , CM000664.1:g.29420451T>C GRCh37
NC_000002.10:g.29273955T>C NCBI36
NG_009445.1:g.728982A>G , LRG_488:g.728982A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000689605.1:c.*579T>C (CLIP4) ENSP00000508948.1:n.*579T>C
ENST00000389048.8:c.4030A>G (ALK) MANE Select ENSP00000373700.3:p.Ser1344Gly
ENST00000431873.6:c.1257A>G (ALK)
ENST00000638605.1:n.907A>G (ALK)
ENST00000642122.1:c.826A>G (ALK) ENSP00000493203.1:p.Ser276Gly
ENST00000389048.7:c.4030A>G (ALK) ENSP00000373700.3:p.Ser1344Gly
ENST00000431873.5:c.910A>G (ALK) ENSP00000414027.2:p.Ser304Gly
ENST00000618119.4:c.2899A>G (ALK) ENSP00000482733.1:p.Ser967Gly
NM_004304.4:c.4030A>G (ALK) NP_004295.2:p.Ser1344Gly
NM_001353765.1:c.826A>G (ALK) NP_001340694.1:p.Ser276Gly
XM_024452778.1:c.1183A>G (ALK) XP_024308546.1:p.Ser395Gly
XM_024452779.1:c.826A>G (ALK) XP_024308547.1:p.Ser276Gly
NM_004304.5:c.4030A>G (ALK) MANE Select NP_004295.2:p.Ser1344Gly
NM_001353765.2:c.826A>G (ALK) NP_001340694.1:p.Ser276Gly