Canonical Allele Identifier: CA1593703

Linked Data

dbSNP Id: rs757123467
gnomAD v2: 2-29420457-C-T
gnomAD v4: 2-29197591-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29197591C>T , CM000664.2:g.29197591C>T GRCh38
NC_000002.11:g.29420457C>T , CM000664.1:g.29420457C>T GRCh37
NC_000002.10:g.29273961C>T NCBI36
NG_009445.1:g.728976G>A , LRG_488:g.728976G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000689605.1:c.*585C>T (CLIP4) ENSP00000508948.1:n.*585C>T
ENST00000389048.8:c.4024G>A (ALK) MANE Select ENSP00000373700.3:p.Val1342Ile
ENST00000431873.6:c.1251G>A (ALK)
ENST00000638605.1:n.901G>A (ALK)
ENST00000642122.1:c.820G>A (ALK) ENSP00000493203.1:p.Val274Ile
ENST00000389048.7:c.4024G>A (ALK) ENSP00000373700.3:p.Val1342Ile
ENST00000431873.5:c.904G>A (ALK) ENSP00000414027.2:p.Val302Ile
ENST00000618119.4:c.2893G>A (ALK) ENSP00000482733.1:p.Val965Ile
NM_004304.4:c.4024G>A (ALK) NP_004295.2:p.Val1342Ile
NM_001353765.1:c.820G>A (ALK) NP_001340694.1:p.Val274Ile
XM_024452778.1:c.1177G>A (ALK) XP_024308546.1:p.Val393Ile
XM_024452779.1:c.820G>A (ALK) XP_024308547.1:p.Val274Ile
NM_004304.5:c.4024G>A (ALK) MANE Select NP_004295.2:p.Val1342Ile
NM_001353765.2:c.820G>A (ALK) NP_001340694.1:p.Val274Ile