Canonical Allele Identifier: CA368996322
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+24C>T ENSP00000497673.2:n.3517+24C>T
ENST00000647978.2:c.*3255C>T ENSP00000497658.1:n.*3255C>T
ENST00000649781.2:c.3358C>T ENSP00000497203.1:p.Pro1120Ser
ENST00000685018.2:c.3541C>T ENSP00000510194.2:p.Pro1181Ser
ENST00000687278.2:c.*194C>T ENSP00000509593.2:n.*194C>T
ENST00000699585.1:c.3517+24C>T ENSP00000514456.1:n.3517+24C>T
ENST00000699598.1:c.3541C>T ENSP00000514467.1:p.Pro1181Ser
ENST00000699599.1:c.3541C>T ENSP00000514468.1:p.Pro1181Ser
ENST00000699600.1:c.*202C>T ENSP00000514469.1:n.*202C>T
ENST00000699601.1:c.*1916C>T ENSP00000514470.1:n.*1916C>T
ENST00000699602.1:c.3535C>T ENSP00000514471.1:p.Pro1179Ser
ENST00000699604.1:c.*3365C>T ENSP00000514472.1:n.*3365C>T
ENST00000699605.1:c.3115C>T ENSP00000514473.1:p.Pro1039Ser
ENST00000685018.1:c.289C>T ENSP00000510194.1:p.Pro97Ser
ENST00000687278.1:c.1328C>T ENSP00000509593.1:n.1328C>T
ENST00000689011.1:c.123C>T
ENST00000003084.11:c.3541C>T MANE Select ENSP00000003084.6:p.Pro1181Ser
ENST00000647720.1:c.1167+24C>T
ENST00000648260.1:c.2323C>T ENSP00000497957.1:p.Pro775Ser
ENST00000649406.1:c.3358C>T ENSP00000497965.1:p.Pro1120Ser
ENST00000649781.1:c.3358C>T ENSP00000497203.1:p.Pro1120Ser
ENST00000003084.10:c.3541C>T ENSP00000003084.6:p.Pro1181Ser
ENST00000426809.5:c.3451C>T ENSP00000389119.1:p.Pro1151Ser
ENST00000468795.1:c.366C>T
NM_000492.3:c.3541C>T , LRG_663t1:c.3541C>T NP_000483.3:p.Pro1181Ser
XM_011515751.1:c.3631C>T XP_011514053.1:p.Pro1211Ser
XM_011515752.1:c.3631C>T XP_011514054.1:p.Pro1211Ser
XM_011515753.1:c.3298C>T XP_011514055.1:p.Pro1100Ser
XM_011515754.1:c.3298C>T XP_011514056.1:p.Pro1100Ser
NM_000492.4:c.3541C>T MANE Select NP_000483.3:p.Pro1181Ser