Canonical Allele Identifier: CA457230425

Gene: CFTR

Linked Data

• dbSNP Id: rs964235018
• MyVariant Identifiers: chr7:g.117304858T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664804T>C , CM000669.2:g.117664804T>C	GRCh38
NC_000007.13:g.117304858T>C , CM000669.1:g.117304858T>C	GRCh37
NC_000007.12:g.117092094T>C	NCBI36
NG_016465.4:g.204021T>C , LRG_663:g.204021T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*289T>C	ENSP00000497673.2:n.*289T>C
ENST00000647978.2:c.*3794T>C	ENSP00000497658.1:n.*3794T>C
ENST00000649781.2:c.3897T>C	ENSP00000497203.1:p.Val1299=
ENST00000685018.2:c.*293T>C	ENSP00000510194.2:n.*293T>C
ENST00000687278.2:c.*733T>C	ENSP00000509593.2:n.*733T>C
ENST00000699585.1:c.*289T>C	ENSP00000514456.1:n.*289T>C
ENST00000699598.1:c.4080T>C	ENSP00000514467.1:p.Val1360=
ENST00000699599.1:c.*293T>C	ENSP00000514468.1:n.*293T>C
ENST00000699600.1:c.*741T>C	ENSP00000514469.1:n.*741T>C
ENST00000699601.1:c.*2455T>C	ENSP00000514470.1:n.*2455T>C
ENST00000699602.1:c.4074T>C	ENSP00000514471.1:p.Val1358=
ENST00000699604.1:c.*3904T>C	ENSP00000514472.1:n.*3904T>C
ENST00000699605.1:c.3654T>C	ENSP00000514473.1:p.Val1218=
ENST00000699606.1:n.2248T>C
ENST00000685018.1:c.944T>C	ENSP00000510194.1:n.944T>C
ENST00000687278.1:c.1867T>C	ENSP00000509593.1:n.1867T>C
ENST00000689011.1:c.662T>C
ENST00000003084.11:c.4080T>C MANE Select	ENSP00000003084.6:p.Val1360=
ENST00000647720.1:c.1530T>C
ENST00000649781.1:c.3897T>C	ENSP00000497203.1:p.Val1299=
ENST00000003084.10:c.4080T>C	ENSP00000003084.6:p.Val1360=
ENST00000426809.5:c.3990T>C	ENSP00000389119.1:p.Val1330=
ENST00000600166.1:c.206T>C
NM_000492.3:c.4080T>C , LRG_663t1:c.4080T>C	NP_000483.3:p.Val1360=
XM_011515751.1:c.4170T>C	XP_011514053.1:p.Val1390=
XM_011515752.1:c.4170T>C	XP_011514054.1:p.Val1390=
XM_011515753.1:c.3837T>C	XP_011514055.1:p.Val1279=
XM_011515754.1:c.3837T>C	XP_011514056.1:p.Val1279=
NM_000492.4:c.4080T>C MANE Select	NP_000483.3:p.Val1360=