Canonical Allele Identifier: CA368996326
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627594C>G , CM000669.2:g.117627594C>G GRCh38
NC_000007.13:g.117267648C>G , CM000669.1:g.117267648C>G GRCh37
NC_000007.12:g.117054884C>G NCBI36
NG_016465.4:g.166811C>G , LRG_663:g.166811C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+24C>G ENSP00000497673.2:n.3517+24C>G
ENST00000647978.2:c.*3255C>G ENSP00000497658.1:n.*3255C>G
ENST00000649781.2:c.3358C>G ENSP00000497203.1:p.Pro1120Ala
ENST00000685018.2:c.3541C>G ENSP00000510194.2:p.Pro1181Ala
ENST00000687278.2:c.*194C>G ENSP00000509593.2:n.*194C>G
ENST00000699585.1:c.3517+24C>G ENSP00000514456.1:n.3517+24C>G
ENST00000699598.1:c.3541C>G ENSP00000514467.1:p.Pro1181Ala
ENST00000699599.1:c.3541C>G ENSP00000514468.1:p.Pro1181Ala
ENST00000699600.1:c.*202C>G ENSP00000514469.1:n.*202C>G
ENST00000699601.1:c.*1916C>G ENSP00000514470.1:n.*1916C>G
ENST00000699602.1:c.3535C>G ENSP00000514471.1:p.Pro1179Ala
ENST00000699604.1:c.*3365C>G ENSP00000514472.1:n.*3365C>G
ENST00000699605.1:c.3115C>G ENSP00000514473.1:p.Pro1039Ala
ENST00000685018.1:c.289C>G ENSP00000510194.1:p.Pro97Ala
ENST00000687278.1:c.1328C>G ENSP00000509593.1:n.1328C>G
ENST00000689011.1:c.123C>G
ENST00000003084.11:c.3541C>G MANE Select ENSP00000003084.6:p.Pro1181Ala
ENST00000647720.1:c.1167+24C>G
ENST00000648260.1:c.2323C>G ENSP00000497957.1:p.Pro775Ala
ENST00000649406.1:c.3358C>G ENSP00000497965.1:p.Pro1120Ala
ENST00000649781.1:c.3358C>G ENSP00000497203.1:p.Pro1120Ala
ENST00000003084.10:c.3541C>G ENSP00000003084.6:p.Pro1181Ala
ENST00000426809.5:c.3451C>G ENSP00000389119.1:p.Pro1151Ala
ENST00000468795.1:c.366C>G
NM_000492.3:c.3541C>G , LRG_663t1:c.3541C>G NP_000483.3:p.Pro1181Ala
XM_011515751.1:c.3631C>G XP_011514053.1:p.Pro1211Ala
XM_011515752.1:c.3631C>G XP_011514054.1:p.Pro1211Ala
XM_011515753.1:c.3298C>G XP_011514055.1:p.Pro1100Ala
XM_011515754.1:c.3298C>G XP_011514056.1:p.Pro1100Ala
NM_000492.4:c.3541C>G MANE Select NP_000483.3:p.Pro1181Ala