Canonical Allele Identifier: CA368983801

Gene: CFTR

Linked Data

• gnomAD v4: 7-117665555-A-C
• MyVariant Identifiers: chr7:g.117305609A>C (hg19) ; chr7:g.117665555A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665555A>C , CM000669.2:g.117665555A>C	GRCh38
NC_000007.13:g.117305609A>C , CM000669.1:g.117305609A>C	GRCh37
NC_000007.12:g.117092845A>C	NCBI36
NG_016465.4:g.204772A>C , LRG_663:g.204772A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*442A>C	ENSP00000497673.2:n.*442A>C
ENST00000647978.2:c.*3947A>C	ENSP00000497658.1:n.*3947A>C
ENST00000649781.2:c.4050A>C	ENSP00000497203.1:p.Gln1350His
ENST00000685018.2:c.*446A>C	ENSP00000510194.2:n.*446A>C
ENST00000687278.2:c.*886A>C	ENSP00000509593.2:n.*886A>C
ENST00000699585.1:c.*442A>C	ENSP00000514456.1:n.*442A>C
ENST00000699598.1:c.4233A>C	ENSP00000514467.1:p.Gln1411His
ENST00000699599.1:c.*446A>C	ENSP00000514468.1:n.*446A>C
ENST00000699600.1:c.*894A>C	ENSP00000514469.1:n.*894A>C
ENST00000699601.1:c.*2608A>C	ENSP00000514470.1:n.*2608A>C
ENST00000699602.1:c.4227A>C	ENSP00000514471.1:p.Gln1409His
ENST00000699604.1:c.*4057A>C	ENSP00000514472.1:n.*4057A>C
ENST00000699605.1:c.3807A>C	ENSP00000514473.1:p.Gln1269His
ENST00000699606.1:n.2401A>C
ENST00000685018.1:c.1097A>C	ENSP00000510194.1:n.1097A>C
ENST00000687278.1:c.2020A>C	ENSP00000509593.1:n.2020A>C
ENST00000689011.1:c.815A>C
ENST00000003084.11:c.4233A>C MANE Select	ENSP00000003084.6:p.Gln1411His
ENST00000647720.1:c.1683A>C
ENST00000649781.1:c.4050A>C	ENSP00000497203.1:p.Gln1350His
ENST00000003084.10:c.4233A>C	ENSP00000003084.6:p.Gln1411His
ENST00000426809.5:c.4143A>C	ENSP00000389119.1:p.Gln1381His
ENST00000600166.1:c.359A>C
NM_000492.3:c.4233A>C , LRG_663t1:c.4233A>C	NP_000483.3:p.Gln1411His
XM_011515751.1:c.4323A>C	XP_011514053.1:p.Gln1441His
XM_011515752.1:c.4323A>C	XP_011514054.1:p.Gln1441His
XM_011515753.1:c.3990A>C	XP_011514055.1:p.Gln1330His
XM_011515754.1:c.3990A>C	XP_011514056.1:p.Gln1330His
NM_000492.4:c.4233A>C MANE Select	NP_000483.3:p.Gln1411His