Canonical Allele Identifier: CA368982211

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304791T>C (hg19) ; chr7:g.117664737T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664737T>C , CM000669.2:g.117664737T>C	GRCh38
NC_000007.13:g.117304791T>C , CM000669.1:g.117304791T>C	GRCh37
NC_000007.12:g.117092027T>C	NCBI36
NG_016465.4:g.203954T>C , LRG_663:g.203954T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*222T>C	ENSP00000497673.2:n.*222T>C
ENST00000647978.2:c.*3727T>C	ENSP00000497658.1:n.*3727T>C
ENST00000649781.2:c.3830T>C	ENSP00000497203.1:p.Val1277Ala
ENST00000685018.2:c.*226T>C	ENSP00000510194.2:n.*226T>C
ENST00000687278.2:c.*666T>C	ENSP00000509593.2:n.*666T>C
ENST00000699585.1:c.*222T>C	ENSP00000514456.1:n.*222T>C
ENST00000699598.1:c.4013T>C	ENSP00000514467.1:p.Val1338Ala
ENST00000699599.1:c.*226T>C	ENSP00000514468.1:n.*226T>C
ENST00000699600.1:c.*674T>C	ENSP00000514469.1:n.*674T>C
ENST00000699601.1:c.*2388T>C	ENSP00000514470.1:n.*2388T>C
ENST00000699602.1:c.4007T>C	ENSP00000514471.1:p.Val1336Ala
ENST00000699604.1:c.*3837T>C	ENSP00000514472.1:n.*3837T>C
ENST00000699605.1:c.3587T>C	ENSP00000514473.1:p.Val1196Ala
ENST00000699606.1:n.2181T>C
ENST00000685018.1:c.877T>C	ENSP00000510194.1:n.877T>C
ENST00000687278.1:c.1800T>C	ENSP00000509593.1:n.1800T>C
ENST00000689011.1:c.595T>C
ENST00000003084.11:c.4013T>C MANE Select	ENSP00000003084.6:p.Val1338Ala
ENST00000647720.1:c.1463T>C
ENST00000649781.1:c.3830T>C	ENSP00000497203.1:p.Val1277Ala
ENST00000003084.10:c.4013T>C	ENSP00000003084.6:p.Val1338Ala
ENST00000426809.5:c.3923T>C	ENSP00000389119.1:p.Val1308Ala
ENST00000600166.1:c.139T>C
NM_000492.3:c.4013T>C , LRG_663t1:c.4013T>C	NP_000483.3:p.Val1338Ala
XM_011515751.1:c.4103T>C	XP_011514053.1:p.Val1368Ala
XM_011515752.1:c.4103T>C	XP_011514054.1:p.Val1368Ala
XM_011515753.1:c.3770T>C	XP_011514055.1:p.Val1257Ala
XM_011515754.1:c.3770T>C	XP_011514056.1:p.Val1257Ala
NM_000492.4:c.4013T>C MANE Select	NP_000483.3:p.Val1338Ala