Canonical Allele Identifier: CA44637988

Linked Data

dbSNP Id: rs557363915
gnomAD v2: 2-29420343-C-G
gnomAD v3: 2-29197477-C-G
gnomAD v4: 2-29197477-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29197477C>G , CM000664.2:g.29197477C>G GRCh38
NC_000002.11:g.29420343C>G , CM000664.1:g.29420343C>G GRCh37
NC_000002.10:g.29273847C>G NCBI36
NG_009445.1:g.729090G>C , LRG_488:g.729090G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000689605.1:c.*471C>G (CLIP4) ENSP00000508948.1:n.*471C>G
ENST00000389048.8:c.4073+65G>C (ALK) MANE Select ENSP00000373700.3:n.4073+65G>C
ENST00000431873.6:c.1300+65G>C (ALK)
ENST00000638605.1:n.950+65G>C (ALK)
ENST00000642122.1:c.869+65G>C (ALK) ENSP00000493203.1:n.869+65G>C
ENST00000389048.7:c.4073+65G>C (ALK) ENSP00000373700.3:n.4073+65G>C
ENST00000431873.5:c.953+65G>C (ALK) ENSP00000414027.2:n.953+65G>C
ENST00000618119.4:c.2942+65G>C (ALK) ENSP00000482733.1:n.2942+65G>C
NM_004304.4:c.4073+65G>C (ALK) NP_004295.2:n.4073+65G>C
NM_001353765.1:c.869+65G>C (ALK) NP_001340694.1:n.869+65G>C
XM_024452778.1:c.1226+65G>C (ALK) XP_024308546.1:n.1226+65G>C
XM_024452779.1:c.869+65G>C (ALK) XP_024308547.1:n.869+65G>C
NM_004304.5:c.4073+65G>C (ALK) MANE Select NP_004295.2:n.4073+65G>C
NM_001353765.2:c.869+65G>C (ALK) NP_001340694.1:n.869+65G>C