Canonical Allele Identifier: CA368987672

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117243836G>T (hg19) ; chr7:g.117603782G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603782G>T , CM000669.2:g.117603782G>T	GRCh38
NC_000007.13:g.117243836G>T , CM000669.1:g.117243836G>T	GRCh37
NC_000007.12:g.117031072G>T	NCBI36
NG_016465.4:g.142999G>T , LRG_663:g.142999G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2908G>T	ENSP00000497673.2:p.Gly970Cys
ENST00000647978.2:c.*2622G>T	ENSP00000497658.1:n.*2622G>T
ENST00000649781.2:c.2725G>T	ENSP00000497203.1:p.Gly909Cys
ENST00000685018.2:c.2908G>T	ENSP00000510194.2:p.Gly970Cys
ENST00000687278.2:c.2908G>T	ENSP00000509593.2:p.Gly970Cys
ENST00000699585.1:c.2908G>T	ENSP00000514456.1:p.Gly970Cys
ENST00000699598.1:c.2908G>T	ENSP00000514467.1:p.Gly970Cys
ENST00000699599.1:c.2908G>T	ENSP00000514468.1:p.Gly970Cys
ENST00000699600.1:c.2908G>T	ENSP00000514469.1:p.Gly970Cys
ENST00000699601.1:c.*1208G>T	ENSP00000514470.1:n.*1208G>T
ENST00000699602.1:c.2908G>T	ENSP00000514471.1:p.Gly970Cys
ENST00000699604.1:c.*2732G>T	ENSP00000514472.1:n.*2732G>T
ENST00000699605.1:c.2482G>T	ENSP00000514473.1:p.Gly828Cys
ENST00000687278.1:c.499G>T	ENSP00000509593.1:p.Gly167Cys
ENST00000003084.11:c.2908G>T MANE Select	ENSP00000003084.6:p.Gly970Cys
ENST00000647720.1:c.558G>T
ENST00000648260.1:c.1690G>T	ENSP00000497957.1:p.Gly564Cys
ENST00000649406.1:c.2725G>T	ENSP00000497965.1:p.Gly909Cys
ENST00000649781.1:c.2725G>T	ENSP00000497203.1:p.Gly909Cys
ENST00000003084.10:c.2908G>T	ENSP00000003084.6:p.Gly970Cys
ENST00000426809.5:c.2818G>T	ENSP00000389119.1:p.Gly940Cys
NM_000492.3:c.2908G>T , LRG_663t1:c.2908G>T	NP_000483.3:p.Gly970Cys
XM_011515751.1:c.2998G>T	XP_011514053.1:p.Gly1000Cys
XM_011515752.1:c.2998G>T	XP_011514054.1:p.Gly1000Cys
XM_011515753.1:c.2665G>T	XP_011514055.1:p.Gly889Cys
XM_011515754.1:c.2665G>T	XP_011514056.1:p.Gly889Cys
NM_000492.4:c.2908G>T MANE Select	NP_000483.3:p.Gly970Cys