Canonical Allele Identifier: CA368996229
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627576C>G , CM000669.2:g.117627576C>G GRCh38
NC_000007.13:g.117267630C>G , CM000669.1:g.117267630C>G GRCh37
NC_000007.12:g.117054866C>G NCBI36
NG_016465.4:g.166793C>G , LRG_663:g.166793C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+6C>G ENSP00000497673.2:n.3517+6C>G
ENST00000647978.2:c.*3237C>G ENSP00000497658.1:n.*3237C>G
ENST00000649781.2:c.3340C>G ENSP00000497203.1:p.Pro1114Ala
ENST00000685018.2:c.3523C>G ENSP00000510194.2:p.Pro1175Ala
ENST00000687278.2:c.*176C>G ENSP00000509593.2:n.*176C>G
ENST00000699585.1:c.3517+6C>G ENSP00000514456.1:n.3517+6C>G
ENST00000699598.1:c.3523C>G ENSP00000514467.1:p.Pro1175Ala
ENST00000699599.1:c.3523C>G ENSP00000514468.1:p.Pro1175Ala
ENST00000699600.1:c.*184C>G ENSP00000514469.1:n.*184C>G
ENST00000699601.1:c.*1898C>G ENSP00000514470.1:n.*1898C>G
ENST00000699602.1:c.3517C>G ENSP00000514471.1:p.Pro1173Ala
ENST00000699604.1:c.*3347C>G ENSP00000514472.1:n.*3347C>G
ENST00000699605.1:c.3097C>G ENSP00000514473.1:p.Pro1033Ala
ENST00000685018.1:c.271C>G ENSP00000510194.1:p.Pro91Ala
ENST00000687278.1:c.1310C>G ENSP00000509593.1:n.1310C>G
ENST00000689011.1:c.105C>G
ENST00000003084.11:c.3523C>G MANE Select ENSP00000003084.6:p.Pro1175Ala
ENST00000647720.1:c.1167+6C>G
ENST00000648260.1:c.2305C>G ENSP00000497957.1:p.Pro769Ala
ENST00000649406.1:c.3340C>G ENSP00000497965.1:p.Pro1114Ala
ENST00000649781.1:c.3340C>G ENSP00000497203.1:p.Pro1114Ala
ENST00000003084.10:c.3523C>G ENSP00000003084.6:p.Pro1175Ala
ENST00000426809.5:c.3433C>G ENSP00000389119.1:p.Pro1145Ala
ENST00000468795.1:c.348C>G
NM_000492.3:c.3523C>G , LRG_663t1:c.3523C>G NP_000483.3:p.Pro1175Ala
XM_011515751.1:c.3613C>G XP_011514053.1:p.Pro1205Ala
XM_011515752.1:c.3613C>G XP_011514054.1:p.Pro1205Ala
XM_011515753.1:c.3280C>G XP_011514055.1:p.Pro1094Ala
XM_011515754.1:c.3280C>G XP_011514056.1:p.Pro1094Ala
NM_000492.4:c.3523C>G MANE Select NP_000483.3:p.Pro1175Ala