Canonical Allele Identifier: CA368983745

Gene: CFTR

Linked Data

• dbSNP Id: rs1793360079
• gnomAD v3: 7-117665539-C-T
• gnomAD v4: 7-117665539-C-T
• MyVariant Identifiers: chr7:g.117305593C>T (hg19) ; chr7:g.117665539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665539C>T , CM000669.2:g.117665539C>T	GRCh38
NC_000007.13:g.117305593C>T , CM000669.1:g.117305593C>T	GRCh37
NC_000007.12:g.117092829C>T	NCBI36
NG_016465.4:g.204756C>T , LRG_663:g.204756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*426C>T	ENSP00000497673.2:n.*426C>T
ENST00000647978.2:c.*3931C>T	ENSP00000497658.1:n.*3931C>T
ENST00000649781.2:c.4034C>T	ENSP00000497203.1:p.Ala1345Val
ENST00000685018.2:c.*430C>T	ENSP00000510194.2:n.*430C>T
ENST00000687278.2:c.*870C>T	ENSP00000509593.2:n.*870C>T
ENST00000699585.1:c.*426C>T	ENSP00000514456.1:n.*426C>T
ENST00000699598.1:c.4217C>T	ENSP00000514467.1:p.Ala1406Val
ENST00000699599.1:c.*430C>T	ENSP00000514468.1:n.*430C>T
ENST00000699600.1:c.*878C>T	ENSP00000514469.1:n.*878C>T
ENST00000699601.1:c.*2592C>T	ENSP00000514470.1:n.*2592C>T
ENST00000699602.1:c.4211C>T	ENSP00000514471.1:p.Ala1404Val
ENST00000699604.1:c.*4041C>T	ENSP00000514472.1:n.*4041C>T
ENST00000699605.1:c.3791C>T	ENSP00000514473.1:p.Ala1264Val
ENST00000699606.1:n.2385C>T
ENST00000685018.1:c.1081C>T	ENSP00000510194.1:n.1081C>T
ENST00000687278.1:c.2004C>T	ENSP00000509593.1:n.2004C>T
ENST00000689011.1:c.799C>T
ENST00000003084.11:c.4217C>T MANE Select	ENSP00000003084.6:p.Ala1406Val
ENST00000647720.1:c.1667C>T
ENST00000649781.1:c.4034C>T	ENSP00000497203.1:p.Ala1345Val
ENST00000003084.10:c.4217C>T	ENSP00000003084.6:p.Ala1406Val
ENST00000426809.5:c.4127C>T	ENSP00000389119.1:p.Ala1376Val
ENST00000600166.1:c.343C>T
NM_000492.3:c.4217C>T , LRG_663t1:c.4217C>T	NP_000483.3:p.Ala1406Val
XM_011515751.1:c.4307C>T	XP_011514053.1:p.Ala1436Val
XM_011515752.1:c.4307C>T	XP_011514054.1:p.Ala1436Val
XM_011515753.1:c.3974C>T	XP_011514055.1:p.Ala1325Val
XM_011515754.1:c.3974C>T	XP_011514056.1:p.Ala1325Val
NM_000492.4:c.4217C>T MANE Select	NP_000483.3:p.Ala1406Val