Canonical Allele Identifier: CA457230450

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304864T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664810T>C , CM000669.2:g.117664810T>C	GRCh38
NC_000007.13:g.117304864T>C , CM000669.1:g.117304864T>C	GRCh37
NC_000007.12:g.117092100T>C	NCBI36
NG_016465.4:g.204027T>C , LRG_663:g.204027T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*295T>C	ENSP00000497673.2:n.*295T>C
ENST00000647978.2:c.*3800T>C	ENSP00000497658.1:n.*3800T>C
ENST00000649781.2:c.3903T>C	ENSP00000497203.1:p.Ser1301=
ENST00000685018.2:c.*299T>C	ENSP00000510194.2:n.*299T>C
ENST00000687278.2:c.*739T>C	ENSP00000509593.2:n.*739T>C
ENST00000699585.1:c.*295T>C	ENSP00000514456.1:n.*295T>C
ENST00000699598.1:c.4086T>C	ENSP00000514467.1:p.Ser1362=
ENST00000699599.1:c.*299T>C	ENSP00000514468.1:n.*299T>C
ENST00000699600.1:c.*747T>C	ENSP00000514469.1:n.*747T>C
ENST00000699601.1:c.*2461T>C	ENSP00000514470.1:n.*2461T>C
ENST00000699602.1:c.4080T>C	ENSP00000514471.1:p.Ser1360=
ENST00000699604.1:c.*3910T>C	ENSP00000514472.1:n.*3910T>C
ENST00000699605.1:c.3660T>C	ENSP00000514473.1:p.Ser1220=
ENST00000699606.1:n.2254T>C
ENST00000685018.1:c.950T>C	ENSP00000510194.1:n.950T>C
ENST00000687278.1:c.1873T>C	ENSP00000509593.1:n.1873T>C
ENST00000689011.1:c.668T>C
ENST00000003084.11:c.4086T>C MANE Select	ENSP00000003084.6:p.Ser1362=
ENST00000647720.1:c.1536T>C
ENST00000649781.1:c.3903T>C	ENSP00000497203.1:p.Ser1301=
ENST00000003084.10:c.4086T>C	ENSP00000003084.6:p.Ser1362=
ENST00000426809.5:c.3996T>C	ENSP00000389119.1:p.Ser1332=
ENST00000600166.1:c.212T>C
NM_000492.3:c.4086T>C , LRG_663t1:c.4086T>C	NP_000483.3:p.Ser1362=
XM_011515751.1:c.4176T>C	XP_011514053.1:p.Ser1392=
XM_011515752.1:c.4176T>C	XP_011514054.1:p.Ser1392=
XM_011515753.1:c.3843T>C	XP_011514055.1:p.Ser1281=
XM_011515754.1:c.3843T>C	XP_011514056.1:p.Ser1281=
NM_000492.4:c.4086T>C MANE Select	NP_000483.3:p.Ser1362=