Canonical Allele Identifier: CA861669435
Gene: CNTLN HGNC NCBI

Linked Data

dbSNP Id: rs10810790
gnomAD v3: 9-17458874-C-G
gnomAD v4: 9-17458874-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.17458874C>G , CM000671.2:g.17458874C>G GRCh38
NC_000009.11:g.17458872C>G , CM000671.1:g.17458872C>G GRCh37
NC_000009.10:g.17448872C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000380647.8:c.3306+1159C>G MANE Select ENSP00000370021.3:n.3306+1159C>G
ENST00000380647.7:c.3306+1159C>G ENSP00000370021.3:n.3306+1159C>G
ENST00000461247.1:n.443+1246C>G
NM_017738.3:c.3306+1159C>G NP_060208.2:n.3306+1159C>G
XM_005251492.1:c.3303+1159C>G XP_005251549.1:n.3303+1159C>G
XM_006716793.2:c.3117+1159C>G XP_006716856.1:n.3117+1159C>G
XM_011517940.1:c.3306+1159C>G XP_011516242.1:n.3306+1159C>G
XM_011517942.1:c.1479+1159C>G XP_011516244.1:n.1479+1159C>G
NM_001365029.1:c.3303+1159C>G NP_001351958.1:n.3303+1159C>G
XM_006716793.4:c.3117+1159C>G XP_006716856.1:n.3117+1159C>G
XM_017014839.1:c.3306+1159C>G XP_016870328.1:n.3306+1159C>G
XM_017014840.2:c.3306+1159C>G XP_016870329.1:n.3306+1159C>G
XM_017014841.1:c.3111+1159C>G XP_016870330.1:n.3111+1159C>G
XM_017014844.1:c.1926+1159C>G XP_016870333.1:n.1926+1159C>G
XM_017014845.2:c.1605+1159C>G XP_016870334.1:n.1605+1159C>G
XM_017014846.1:c.1251+1159C>G XP_016870335.1:n.1251+1159C>G
XM_017014847.2:c.1251+1159C>G XP_016870336.1:n.1251+1159C>G
XM_024447583.1:c.3306+1159C>G XP_024303351.1:n.3306+1159C>G
NM_017738.4:c.3306+1159C>G MANE Select NP_060208.2:n.3306+1159C>G