Canonical Allele Identifier: CA368981816

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304754T>C (hg19) ; chr7:g.117664700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664700T>C , CM000669.2:g.117664700T>C	GRCh38
NC_000007.13:g.117304754T>C , CM000669.1:g.117304754T>C	GRCh37
NC_000007.12:g.117091990T>C	NCBI36
NG_016465.4:g.203917T>C , LRG_663:g.203917T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*185T>C	ENSP00000497673.2:n.*185T>C
ENST00000647978.2:c.*3690T>C	ENSP00000497658.1:n.*3690T>C
ENST00000649781.2:c.3793T>C	ENSP00000497203.1:p.Ser1265Pro
ENST00000685018.2:c.*189T>C	ENSP00000510194.2:n.*189T>C
ENST00000687278.2:c.*629T>C	ENSP00000509593.2:n.*629T>C
ENST00000699585.1:c.*185T>C	ENSP00000514456.1:n.*185T>C
ENST00000699598.1:c.3976T>C	ENSP00000514467.1:p.Ser1326Pro
ENST00000699599.1:c.*189T>C	ENSP00000514468.1:n.*189T>C
ENST00000699600.1:c.*637T>C	ENSP00000514469.1:n.*637T>C
ENST00000699601.1:c.*2351T>C	ENSP00000514470.1:n.*2351T>C
ENST00000699602.1:c.3970T>C	ENSP00000514471.1:p.Ser1324Pro
ENST00000699604.1:c.*3800T>C	ENSP00000514472.1:n.*3800T>C
ENST00000699605.1:c.3550T>C	ENSP00000514473.1:p.Ser1184Pro
ENST00000699606.1:n.2144T>C
ENST00000685018.1:c.840T>C	ENSP00000510194.1:n.840T>C
ENST00000687278.1:c.1763T>C	ENSP00000509593.1:n.1763T>C
ENST00000689011.1:c.558T>C
ENST00000003084.11:c.3976T>C MANE Select	ENSP00000003084.6:p.Ser1326Pro
ENST00000647720.1:c.1426T>C
ENST00000649781.1:c.3793T>C	ENSP00000497203.1:p.Ser1265Pro
ENST00000003084.10:c.3976T>C	ENSP00000003084.6:p.Ser1326Pro
ENST00000426809.5:c.3886T>C	ENSP00000389119.1:p.Ser1296Pro
ENST00000600166.1:c.102T>C
NM_000492.3:c.3976T>C , LRG_663t1:c.3976T>C	NP_000483.3:p.Ser1326Pro
XM_011515751.1:c.4066T>C	XP_011514053.1:p.Ser1356Pro
XM_011515752.1:c.4066T>C	XP_011514054.1:p.Ser1356Pro
XM_011515753.1:c.3733T>C	XP_011514055.1:p.Ser1245Pro
XM_011515754.1:c.3733T>C	XP_011514056.1:p.Ser1245Pro
NM_000492.4:c.3976T>C MANE Select	NP_000483.3:p.Ser1326Pro