Canonical Allele Identifier: CA368975161

Gene: CFTR

Linked Data

• gnomAD v4: 7-117642537-T-C
• MyVariant Identifiers: chr7:g.117282591T>C (hg19) ; chr7:g.117642537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642537T>C , CM000669.2:g.117642537T>C	GRCh38
NC_000007.13:g.117282591T>C , CM000669.1:g.117282591T>C	GRCh37
NC_000007.12:g.117069827T>C	NCBI36
NG_016465.4:g.181754T>C , LRG_663:g.181754T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*26T>C	ENSP00000497673.2:n.*26T>C
ENST00000647978.2:c.*3531T>C	ENSP00000497658.1:n.*3531T>C
ENST00000649781.2:c.3634T>C	ENSP00000497203.1:p.Ser1212Pro
ENST00000685018.2:c.3817T>C	ENSP00000510194.2:p.Ser1273Pro
ENST00000687278.2:c.*470T>C	ENSP00000509593.2:n.*470T>C
ENST00000699585.1:c.*26T>C	ENSP00000514456.1:n.*26T>C
ENST00000699598.1:c.3817T>C	ENSP00000514467.1:p.Ser1273Pro
ENST00000699599.1:c.3817T>C	ENSP00000514468.1:p.Ser1273Pro
ENST00000699600.1:c.*478T>C	ENSP00000514469.1:n.*478T>C
ENST00000699601.1:c.*2192T>C	ENSP00000514470.1:n.*2192T>C
ENST00000699602.1:c.3811T>C	ENSP00000514471.1:p.Ser1271Pro
ENST00000699604.1:c.*3641T>C	ENSP00000514472.1:n.*3641T>C
ENST00000699605.1:c.3391T>C	ENSP00000514473.1:p.Ser1131Pro
ENST00000685018.1:c.565T>C	ENSP00000510194.1:p.Ser189Pro
ENST00000687278.1:c.1604T>C	ENSP00000509593.1:n.1604T>C
ENST00000689011.1:c.399T>C
ENST00000003084.11:c.3817T>C MANE Select	ENSP00000003084.6:p.Ser1273Pro
ENST00000647720.1:c.1267T>C
ENST00000649781.1:c.3634T>C	ENSP00000497203.1:p.Ser1212Pro
ENST00000003084.10:c.3817T>C	ENSP00000003084.6:p.Ser1273Pro
ENST00000426809.5:c.3727T>C	ENSP00000389119.1:p.Ser1243Pro
NM_000492.3:c.3817T>C , LRG_663t1:c.3817T>C	NP_000483.3:p.Ser1273Pro
XM_011515751.1:c.3907T>C	XP_011514053.1:p.Ser1303Pro
XM_011515752.1:c.3907T>C	XP_011514054.1:p.Ser1303Pro
XM_011515753.1:c.3574T>C	XP_011514055.1:p.Ser1192Pro
XM_011515754.1:c.3574T>C	XP_011514056.1:p.Ser1192Pro
NM_000492.4:c.3817T>C MANE Select	NP_000483.3:p.Ser1273Pro