Canonical Allele Identifier: CA457231157

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307084A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667030A>C , CM000669.2:g.117667030A>C	GRCh38
NC_000007.13:g.117307084A>C , CM000669.1:g.117307084A>C	GRCh37
NC_000007.12:g.117094320A>C	NCBI36
NG_016465.4:g.206247A>C , LRG_663:g.206247A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*574A>C	ENSP00000497673.2:n.*574A>C
ENST00000647978.2:c.*4079A>C	ENSP00000497658.1:n.*4079A>C
ENST00000649781.2:c.4182A>C	ENSP00000497203.1:p.Ser1394=
ENST00000685018.2:c.*578A>C	ENSP00000510194.2:n.*578A>C
ENST00000687278.2:c.*896-572A>C	ENSP00000509593.2:n.*896-572A>C
ENST00000699585.1:c.*834A>C	ENSP00000514456.1:n.*834A>C
ENST00000699598.1:c.*71A>C	ENSP00000514467.1:n.*71A>C
ENST00000699599.1:c.*578A>C	ENSP00000514468.1:n.*578A>C
ENST00000699600.1:c.*904-572A>C	ENSP00000514469.1:n.*904-572A>C
ENST00000699601.1:c.*2740A>C	ENSP00000514470.1:n.*2740A>C
ENST00000699602.1:c.4359A>C	ENSP00000514471.1:p.Ser1453=
ENST00000699604.1:c.*4189A>C	ENSP00000514472.1:n.*4189A>C
ENST00000699605.1:c.3939A>C	ENSP00000514473.1:p.Ser1313=
ENST00000699606.1:n.3876A>C
ENST00000685018.1:c.1229A>C	ENSP00000510194.1:n.1229A>C
ENST00000687278.1:c.2030-572A>C	ENSP00000509593.1:n.2030-572A>C
ENST00000689011.1:c.1207A>C
ENST00000003084.11:c.4365A>C MANE Select	ENSP00000003084.6:p.Ser1455=
ENST00000647720.1:c.1815A>C
ENST00000649781.1:c.4182A>C	ENSP00000497203.1:p.Ser1394=
ENST00000003084.10:c.4365A>C	ENSP00000003084.6:p.Ser1455=
ENST00000426809.5:c.4275A>C	ENSP00000389119.1:p.Ser1425=
ENST00000600166.1:c.368+1466A>C
NM_000492.3:c.4365A>C , LRG_663t1:c.4365A>C	NP_000483.3:p.Ser1455=
XM_011515751.1:c.4455A>C	XP_011514053.1:p.Ser1485=
XM_011515753.1:c.4122A>C	XP_011514055.1:p.Ser1374=
XM_011515754.1:c.4122A>C	XP_011514056.1:p.Ser1374=
NM_000492.4:c.4365A>C MANE Select	NP_000483.3:p.Ser1455=