Canonical Allele Identifier: CA368982479

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304819C>A (hg19) ; chr7:g.117664765C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664765C>A , CM000669.2:g.117664765C>A	GRCh38
NC_000007.13:g.117304819C>A , CM000669.1:g.117304819C>A	GRCh37
NC_000007.12:g.117092055C>A	NCBI36
NG_016465.4:g.203982C>A , LRG_663:g.203982C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*250C>A	ENSP00000497673.2:n.*250C>A
ENST00000647978.2:c.*3755C>A	ENSP00000497658.1:n.*3755C>A
ENST00000649781.2:c.3858C>A	ENSP00000497203.1:p.Ser1286Arg
ENST00000685018.2:c.*254C>A	ENSP00000510194.2:n.*254C>A
ENST00000687278.2:c.*694C>A	ENSP00000509593.2:n.*694C>A
ENST00000699585.1:c.*250C>A	ENSP00000514456.1:n.*250C>A
ENST00000699598.1:c.4041C>A	ENSP00000514467.1:p.Ser1347Arg
ENST00000699599.1:c.*254C>A	ENSP00000514468.1:n.*254C>A
ENST00000699600.1:c.*702C>A	ENSP00000514469.1:n.*702C>A
ENST00000699601.1:c.*2416C>A	ENSP00000514470.1:n.*2416C>A
ENST00000699602.1:c.4035C>A	ENSP00000514471.1:p.Ser1345Arg
ENST00000699604.1:c.*3865C>A	ENSP00000514472.1:n.*3865C>A
ENST00000699605.1:c.3615C>A	ENSP00000514473.1:p.Ser1205Arg
ENST00000699606.1:n.2209C>A
ENST00000685018.1:c.905C>A	ENSP00000510194.1:n.905C>A
ENST00000687278.1:c.1828C>A	ENSP00000509593.1:n.1828C>A
ENST00000689011.1:c.623C>A
ENST00000003084.11:c.4041C>A MANE Select	ENSP00000003084.6:p.Ser1347Arg
ENST00000647720.1:c.1491C>A
ENST00000649781.1:c.3858C>A	ENSP00000497203.1:p.Ser1286Arg
ENST00000003084.10:c.4041C>A	ENSP00000003084.6:p.Ser1347Arg
ENST00000426809.5:c.3951C>A	ENSP00000389119.1:p.Ser1317Arg
ENST00000600166.1:c.167C>A
NM_000492.3:c.4041C>A , LRG_663t1:c.4041C>A	NP_000483.3:p.Ser1347Arg
XM_011515751.1:c.4131C>A	XP_011514053.1:p.Ser1377Arg
XM_011515752.1:c.4131C>A	XP_011514054.1:p.Ser1377Arg
XM_011515753.1:c.3798C>A	XP_011514055.1:p.Ser1266Arg
XM_011515754.1:c.3798C>A	XP_011514056.1:p.Ser1266Arg
NM_000492.4:c.4041C>A MANE Select	NP_000483.3:p.Ser1347Arg