Canonical Allele Identifier: CA368997400
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627718G>T , CM000669.2:g.117627718G>T GRCh38
NC_000007.13:g.117267772G>T , CM000669.1:g.117267772G>T GRCh37
NC_000007.12:g.117055008G>T NCBI36
NG_016465.4:g.166935G>T , LRG_663:g.166935G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3517+148G>T ENSP00000497673.2:n.3517+148G>T
ENST00000647978.2:c.*3379G>T ENSP00000497658.1:n.*3379G>T
ENST00000649781.2:c.3482G>T ENSP00000497203.1:p.Gly1161Val
ENST00000685018.2:c.3665G>T ENSP00000510194.2:p.Gly1222Val
ENST00000687278.2:c.*318G>T ENSP00000509593.2:n.*318G>T
ENST00000699585.1:c.3517+148G>T ENSP00000514456.1:n.3517+148G>T
ENST00000699598.1:c.3665G>T ENSP00000514467.1:p.Gly1222Val
ENST00000699599.1:c.3665G>T ENSP00000514468.1:p.Gly1222Val
ENST00000699600.1:c.*326G>T ENSP00000514469.1:n.*326G>T
ENST00000699601.1:c.*2040G>T ENSP00000514470.1:n.*2040G>T
ENST00000699602.1:c.3659G>T ENSP00000514471.1:p.Gly1220Val
ENST00000699604.1:c.*3489G>T ENSP00000514472.1:n.*3489G>T
ENST00000699605.1:c.3239G>T ENSP00000514473.1:p.Gly1080Val
ENST00000685018.1:c.413G>T ENSP00000510194.1:p.Gly138Val
ENST00000687278.1:c.1452G>T ENSP00000509593.1:n.1452G>T
ENST00000689011.1:c.247G>T
ENST00000003084.11:c.3665G>T MANE Select ENSP00000003084.6:p.Gly1222Val
ENST00000647720.1:c.1167+148G>T
ENST00000648260.1:c.2447G>T ENSP00000497957.1:p.Gly816Val
ENST00000649406.1:c.3482G>T ENSP00000497965.1:p.Gly1161Val
ENST00000649781.1:c.3482G>T ENSP00000497203.1:p.Gly1161Val
ENST00000003084.10:c.3665G>T ENSP00000003084.6:p.Gly1222Val
ENST00000426809.5:c.3575G>T ENSP00000389119.1:p.Gly1192Val
ENST00000468795.1:c.490G>T
NM_000492.3:c.3665G>T , LRG_663t1:c.3665G>T NP_000483.3:p.Gly1222Val
XM_011515751.1:c.3755G>T XP_011514053.1:p.Gly1252Val
XM_011515752.1:c.3755G>T XP_011514054.1:p.Gly1252Val
XM_011515753.1:c.3422G>T XP_011514055.1:p.Gly1141Val
XM_011515754.1:c.3422G>T XP_011514056.1:p.Gly1141Val
NM_000492.4:c.3665G>T MANE Select NP_000483.3:p.Gly1222Val