Canonical Allele Identifier: CA368982080

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304776G>C (hg19) ; chr7:g.117664722G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664722G>C , CM000669.2:g.117664722G>C	GRCh38
NC_000007.13:g.117304776G>C , CM000669.1:g.117304776G>C	GRCh37
NC_000007.12:g.117092012G>C	NCBI36
NG_016465.4:g.203939G>C , LRG_663:g.203939G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*207G>C	ENSP00000497673.2:n.*207G>C
ENST00000647978.2:c.*3712G>C	ENSP00000497658.1:n.*3712G>C
ENST00000649781.2:c.3815G>C	ENSP00000497203.1:p.Gly1272Ala
ENST00000685018.2:c.*211G>C	ENSP00000510194.2:n.*211G>C
ENST00000687278.2:c.*651G>C	ENSP00000509593.2:n.*651G>C
ENST00000699585.1:c.*207G>C	ENSP00000514456.1:n.*207G>C
ENST00000699598.1:c.3998G>C	ENSP00000514467.1:p.Gly1333Ala
ENST00000699599.1:c.*211G>C	ENSP00000514468.1:n.*211G>C
ENST00000699600.1:c.*659G>C	ENSP00000514469.1:n.*659G>C
ENST00000699601.1:c.*2373G>C	ENSP00000514470.1:n.*2373G>C
ENST00000699602.1:c.3992G>C	ENSP00000514471.1:p.Gly1331Ala
ENST00000699604.1:c.*3822G>C	ENSP00000514472.1:n.*3822G>C
ENST00000699605.1:c.3572G>C	ENSP00000514473.1:p.Gly1191Ala
ENST00000699606.1:n.2166G>C
ENST00000685018.1:c.862G>C	ENSP00000510194.1:n.862G>C
ENST00000687278.1:c.1785G>C	ENSP00000509593.1:n.1785G>C
ENST00000689011.1:c.580G>C
ENST00000003084.11:c.3998G>C MANE Select	ENSP00000003084.6:p.Gly1333Ala
ENST00000647720.1:c.1448G>C
ENST00000649781.1:c.3815G>C	ENSP00000497203.1:p.Gly1272Ala
ENST00000003084.10:c.3998G>C	ENSP00000003084.6:p.Gly1333Ala
ENST00000426809.5:c.3908G>C	ENSP00000389119.1:p.Gly1303Ala
ENST00000600166.1:c.124G>C
NM_000492.3:c.3998G>C , LRG_663t1:c.3998G>C	NP_000483.3:p.Gly1333Ala
XM_011515751.1:c.4088G>C	XP_011514053.1:p.Gly1363Ala
XM_011515752.1:c.4088G>C	XP_011514054.1:p.Gly1363Ala
XM_011515753.1:c.3755G>C	XP_011514055.1:p.Gly1252Ala
XM_011515754.1:c.3755G>C	XP_011514056.1:p.Gly1252Ala
NM_000492.4:c.3998G>C MANE Select	NP_000483.3:p.Gly1333Ala