Canonical Allele Identifier: CA368984794

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307036A>T (hg19) ; chr7:g.117666982A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666982A>T , CM000669.2:g.117666982A>T	GRCh38
NC_000007.13:g.117307036A>T , CM000669.1:g.117307036A>T	GRCh37
NC_000007.12:g.117094272A>T	NCBI36
NG_016465.4:g.206199A>T , LRG_663:g.206199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*526A>T	ENSP00000497673.2:n.*526A>T
ENST00000647978.2:c.*4031A>T	ENSP00000497658.1:n.*4031A>T
ENST00000649781.2:c.4134A>T	ENSP00000497203.1:p.Gln1378His
ENST00000685018.2:c.*530A>T	ENSP00000510194.2:n.*530A>T
ENST00000687278.2:c.*896-620A>T	ENSP00000509593.2:n.*896-620A>T
ENST00000699585.1:c.*786A>T	ENSP00000514456.1:n.*786A>T
ENST00000699598.1:c.*23A>T	ENSP00000514467.1:n.*23A>T
ENST00000699599.1:c.*530A>T	ENSP00000514468.1:n.*530A>T
ENST00000699600.1:c.*904-620A>T	ENSP00000514469.1:n.*904-620A>T
ENST00000699601.1:c.*2692A>T	ENSP00000514470.1:n.*2692A>T
ENST00000699602.1:c.4311A>T	ENSP00000514471.1:p.Gln1437His
ENST00000699604.1:c.*4141A>T	ENSP00000514472.1:n.*4141A>T
ENST00000699605.1:c.3891A>T	ENSP00000514473.1:p.Gln1297His
ENST00000699606.1:n.3828A>T
ENST00000685018.1:c.1181A>T	ENSP00000510194.1:n.1181A>T
ENST00000687278.1:c.2030-620A>T	ENSP00000509593.1:n.2030-620A>T
ENST00000689011.1:c.1159A>T
ENST00000003084.11:c.4317A>T MANE Select	ENSP00000003084.6:p.Gln1439His
ENST00000647720.1:c.1767A>T
ENST00000649781.1:c.4134A>T	ENSP00000497203.1:p.Gln1378His
ENST00000003084.10:c.4317A>T	ENSP00000003084.6:p.Gln1439His
ENST00000426809.5:c.4227A>T	ENSP00000389119.1:p.Gln1409His
ENST00000600166.1:c.368+1418A>T
NM_000492.3:c.4317A>T , LRG_663t1:c.4317A>T	NP_000483.3:p.Gln1439His
XM_011515751.1:c.4407A>T	XP_011514053.1:p.Gln1469His
XM_011515753.1:c.4074A>T	XP_011514055.1:p.Gln1358His
XM_011515754.1:c.4074A>T	XP_011514056.1:p.Gln1358His
NM_000492.4:c.4317A>T MANE Select	NP_000483.3:p.Gln1439His