Canonical Allele Identifier: CA368982633

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304838A>C (hg19) ; chr7:g.117664784A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664784A>C , CM000669.2:g.117664784A>C	GRCh38
NC_000007.13:g.117304838A>C , CM000669.1:g.117304838A>C	GRCh37
NC_000007.12:g.117092074A>C	NCBI36
NG_016465.4:g.204001A>C , LRG_663:g.204001A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*269A>C	ENSP00000497673.2:n.*269A>C
ENST00000647978.2:c.*3774A>C	ENSP00000497658.1:n.*3774A>C
ENST00000649781.2:c.3877A>C	ENSP00000497203.1:p.Met1293Leu
ENST00000685018.2:c.*273A>C	ENSP00000510194.2:n.*273A>C
ENST00000687278.2:c.*713A>C	ENSP00000509593.2:n.*713A>C
ENST00000699585.1:c.*269A>C	ENSP00000514456.1:n.*269A>C
ENST00000699598.1:c.4060A>C	ENSP00000514467.1:p.Met1354Leu
ENST00000699599.1:c.*273A>C	ENSP00000514468.1:n.*273A>C
ENST00000699600.1:c.*721A>C	ENSP00000514469.1:n.*721A>C
ENST00000699601.1:c.*2435A>C	ENSP00000514470.1:n.*2435A>C
ENST00000699602.1:c.4054A>C	ENSP00000514471.1:p.Met1352Leu
ENST00000699604.1:c.*3884A>C	ENSP00000514472.1:n.*3884A>C
ENST00000699605.1:c.3634A>C	ENSP00000514473.1:p.Met1212Leu
ENST00000699606.1:n.2228A>C
ENST00000685018.1:c.924A>C	ENSP00000510194.1:n.924A>C
ENST00000687278.1:c.1847A>C	ENSP00000509593.1:n.1847A>C
ENST00000689011.1:c.642A>C
ENST00000003084.11:c.4060A>C MANE Select	ENSP00000003084.6:p.Met1354Leu
ENST00000647720.1:c.1510A>C
ENST00000649781.1:c.3877A>C	ENSP00000497203.1:p.Met1293Leu
ENST00000003084.10:c.4060A>C	ENSP00000003084.6:p.Met1354Leu
ENST00000426809.5:c.3970A>C	ENSP00000389119.1:p.Met1324Leu
ENST00000600166.1:c.186A>C
NM_000492.3:c.4060A>C , LRG_663t1:c.4060A>C	NP_000483.3:p.Met1354Leu
XM_011515751.1:c.4150A>C	XP_011514053.1:p.Met1384Leu
XM_011515752.1:c.4150A>C	XP_011514054.1:p.Met1384Leu
XM_011515753.1:c.3817A>C	XP_011514055.1:p.Met1273Leu
XM_011515754.1:c.3817A>C	XP_011514056.1:p.Met1273Leu
NM_000492.4:c.4060A>C MANE Select	NP_000483.3:p.Met1354Leu