Canonical Allele Identifier: CA368982622

Gene: CFTR

Linked Data

• gnomAD v4: 7-117664779-A-C
• MyVariant Identifiers: chr7:g.117304833A>C (hg19) ; chr7:g.117664779A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664779A>C , CM000669.2:g.117664779A>C	GRCh38
NC_000007.13:g.117304833A>C , CM000669.1:g.117304833A>C	GRCh37
NC_000007.12:g.117092069A>C	NCBI36
NG_016465.4:g.203996A>C , LRG_663:g.203996A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*264A>C	ENSP00000497673.2:n.*264A>C
ENST00000647978.2:c.*3769A>C	ENSP00000497658.1:n.*3769A>C
ENST00000649781.2:c.3872A>C	ENSP00000497203.1:p.Gln1291Pro
ENST00000685018.2:c.*268A>C	ENSP00000510194.2:n.*268A>C
ENST00000687278.2:c.*708A>C	ENSP00000509593.2:n.*708A>C
ENST00000699585.1:c.*264A>C	ENSP00000514456.1:n.*264A>C
ENST00000699598.1:c.4055A>C	ENSP00000514467.1:p.Gln1352Pro
ENST00000699599.1:c.*268A>C	ENSP00000514468.1:n.*268A>C
ENST00000699600.1:c.*716A>C	ENSP00000514469.1:n.*716A>C
ENST00000699601.1:c.*2430A>C	ENSP00000514470.1:n.*2430A>C
ENST00000699602.1:c.4049A>C	ENSP00000514471.1:p.Gln1350Pro
ENST00000699604.1:c.*3879A>C	ENSP00000514472.1:n.*3879A>C
ENST00000699605.1:c.3629A>C	ENSP00000514473.1:p.Gln1210Pro
ENST00000699606.1:n.2223A>C
ENST00000685018.1:c.919A>C	ENSP00000510194.1:n.919A>C
ENST00000687278.1:c.1842A>C	ENSP00000509593.1:n.1842A>C
ENST00000689011.1:c.637A>C
ENST00000003084.11:c.4055A>C MANE Select	ENSP00000003084.6:p.Gln1352Pro
ENST00000647720.1:c.1505A>C
ENST00000649781.1:c.3872A>C	ENSP00000497203.1:p.Gln1291Pro
ENST00000003084.10:c.4055A>C	ENSP00000003084.6:p.Gln1352Pro
ENST00000426809.5:c.3965A>C	ENSP00000389119.1:p.Gln1322Pro
ENST00000600166.1:c.181A>C
NM_000492.3:c.4055A>C , LRG_663t1:c.4055A>C	NP_000483.3:p.Gln1352Pro
XM_011515751.1:c.4145A>C	XP_011514053.1:p.Gln1382Pro
XM_011515752.1:c.4145A>C	XP_011514054.1:p.Gln1382Pro
XM_011515753.1:c.3812A>C	XP_011514055.1:p.Gln1271Pro
XM_011515754.1:c.3812A>C	XP_011514056.1:p.Gln1271Pro
NM_000492.4:c.4055A>C MANE Select	NP_000483.3:p.Gln1352Pro