Canonical Allele Identifier: CA457230266

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304759G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664705G>C , CM000669.2:g.117664705G>C	GRCh38
NC_000007.13:g.117304759G>C , CM000669.1:g.117304759G>C	GRCh37
NC_000007.12:g.117091995G>C	NCBI36
NG_016465.4:g.203922G>C , LRG_663:g.203922G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*190G>C	ENSP00000497673.2:n.*190G>C
ENST00000647978.2:c.*3695G>C	ENSP00000497658.1:n.*3695G>C
ENST00000649781.2:c.3798G>C	ENSP00000497203.1:p.Val1266=
ENST00000685018.2:c.*194G>C	ENSP00000510194.2:n.*194G>C
ENST00000687278.2:c.*634G>C	ENSP00000509593.2:n.*634G>C
ENST00000699585.1:c.*190G>C	ENSP00000514456.1:n.*190G>C
ENST00000699598.1:c.3981G>C	ENSP00000514467.1:p.Val1327=
ENST00000699599.1:c.*194G>C	ENSP00000514468.1:n.*194G>C
ENST00000699600.1:c.*642G>C	ENSP00000514469.1:n.*642G>C
ENST00000699601.1:c.*2356G>C	ENSP00000514470.1:n.*2356G>C
ENST00000699602.1:c.3975G>C	ENSP00000514471.1:p.Val1325=
ENST00000699604.1:c.*3805G>C	ENSP00000514472.1:n.*3805G>C
ENST00000699605.1:c.3555G>C	ENSP00000514473.1:p.Val1185=
ENST00000699606.1:n.2149G>C
ENST00000685018.1:c.845G>C	ENSP00000510194.1:n.845G>C
ENST00000687278.1:c.1768G>C	ENSP00000509593.1:n.1768G>C
ENST00000689011.1:c.563G>C
ENST00000003084.11:c.3981G>C MANE Select	ENSP00000003084.6:p.Val1327=
ENST00000647720.1:c.1431G>C
ENST00000649781.1:c.3798G>C	ENSP00000497203.1:p.Val1266=
ENST00000003084.10:c.3981G>C	ENSP00000003084.6:p.Val1327=
ENST00000426809.5:c.3891G>C	ENSP00000389119.1:p.Val1297=
ENST00000600166.1:c.107G>C
NM_000492.3:c.3981G>C , LRG_663t1:c.3981G>C	NP_000483.3:p.Val1327=
XM_011515751.1:c.4071G>C	XP_011514053.1:p.Val1357=
XM_011515752.1:c.4071G>C	XP_011514054.1:p.Val1357=
XM_011515753.1:c.3738G>C	XP_011514055.1:p.Val1246=
XM_011515754.1:c.3738G>C	XP_011514056.1:p.Val1246=
NM_000492.4:c.3981G>C MANE Select	NP_000483.3:p.Val1327=