Canonical Allele Identifier: CA368975133

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282586G>T (hg19) ; chr7:g.117642532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642532G>T , CM000669.2:g.117642532G>T	GRCh38
NC_000007.13:g.117282586G>T , CM000669.1:g.117282586G>T	GRCh37
NC_000007.12:g.117069822G>T	NCBI36
NG_016465.4:g.181749G>T , LRG_663:g.181749G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*21G>T	ENSP00000497673.2:n.*21G>T
ENST00000647978.2:c.*3526G>T	ENSP00000497658.1:n.*3526G>T
ENST00000649781.2:c.3629G>T	ENSP00000497203.1:p.Gly1210Val
ENST00000685018.2:c.3812G>T	ENSP00000510194.2:p.Gly1271Val
ENST00000687278.2:c.*465G>T	ENSP00000509593.2:n.*465G>T
ENST00000699585.1:c.*21G>T	ENSP00000514456.1:n.*21G>T
ENST00000699598.1:c.3812G>T	ENSP00000514467.1:p.Gly1271Val
ENST00000699599.1:c.3812G>T	ENSP00000514468.1:p.Gly1271Val
ENST00000699600.1:c.*473G>T	ENSP00000514469.1:n.*473G>T
ENST00000699601.1:c.*2187G>T	ENSP00000514470.1:n.*2187G>T
ENST00000699602.1:c.3806G>T	ENSP00000514471.1:p.Gly1269Val
ENST00000699604.1:c.*3636G>T	ENSP00000514472.1:n.*3636G>T
ENST00000699605.1:c.3386G>T	ENSP00000514473.1:p.Gly1129Val
ENST00000685018.1:c.560G>T	ENSP00000510194.1:p.Gly187Val
ENST00000687278.1:c.1599G>T	ENSP00000509593.1:n.1599G>T
ENST00000689011.1:c.394G>T
ENST00000003084.11:c.3812G>T MANE Select	ENSP00000003084.6:p.Gly1271Val
ENST00000647720.1:c.1262G>T
ENST00000649781.1:c.3629G>T	ENSP00000497203.1:p.Gly1210Val
ENST00000003084.10:c.3812G>T	ENSP00000003084.6:p.Gly1271Val
ENST00000426809.5:c.3722G>T	ENSP00000389119.1:p.Gly1241Val
NM_000492.3:c.3812G>T , LRG_663t1:c.3812G>T	NP_000483.3:p.Gly1271Val
XM_011515751.1:c.3902G>T	XP_011514053.1:p.Gly1301Val
XM_011515752.1:c.3902G>T	XP_011514054.1:p.Gly1301Val
XM_011515753.1:c.3569G>T	XP_011514055.1:p.Gly1190Val
XM_011515754.1:c.3569G>T	XP_011514056.1:p.Gly1190Val
NM_000492.4:c.3812G>T MANE Select	NP_000483.3:p.Gly1271Val