Canonical Allele Identifier: CA327181

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53740
• ClinVar RCV Id: RCV001389828 ; RCV001826664
• dbSNP Id: rs397508560
• gnomAD v4: 7-117614675-C-T
• MyVariant Identifiers: chr7:g.117254729C>T (hg19) ; chr7:g.117614675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614675C>T , CM000669.2:g.117614675C>T	GRCh38
NC_000007.13:g.117254729C>T , CM000669.1:g.117254729C>T	GRCh37
NC_000007.12:g.117041965C>T	NCBI36
NG_016465.4:g.153892C>T , LRG_663:g.153892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3430C>T	ENSP00000497673.2:p.Gln1144Ter
ENST00000647978.2:c.*3144C>T	ENSP00000497658.1:n.*3144C>T
ENST00000649781.2:c.3247C>T	ENSP00000497203.1:p.Gln1083Ter
ENST00000685018.2:c.3430C>T	ENSP00000510194.2:p.Gln1144Ter
ENST00000687278.2:c.3430C>T	ENSP00000509593.2:p.Gln1144Ter
ENST00000699585.1:c.3430C>T	ENSP00000514456.1:p.Gln1144Ter
ENST00000699598.1:c.3430C>T	ENSP00000514467.1:p.Gln1144Ter
ENST00000699599.1:c.3430C>T	ENSP00000514468.1:p.Gln1144Ter
ENST00000699600.1:c.3430C>T	ENSP00000514469.1:p.Gln1144Ter
ENST00000699601.1:c.*1805C>T	ENSP00000514470.1:n.*1805C>T
ENST00000699602.1:c.3424C>T	ENSP00000514471.1:p.Gln1142Ter
ENST00000699604.1:c.*3254C>T	ENSP00000514472.1:n.*3254C>T
ENST00000699605.1:c.3004C>T	ENSP00000514473.1:p.Gln1002Ter
ENST00000685018.1:c.178C>T	ENSP00000510194.1:p.Gln60Ter
ENST00000687278.1:c.1021C>T	ENSP00000509593.1:p.Gln341Ter
ENST00000689011.1:c.12C>T
ENST00000003084.11:c.3430C>T MANE Select	ENSP00000003084.6:p.Gln1144Ter
ENST00000647720.1:c.1080C>T
ENST00000648260.1:c.2212C>T	ENSP00000497957.1:p.Gln738Ter
ENST00000649406.1:c.3247C>T	ENSP00000497965.1:p.Gln1083Ter
ENST00000649781.1:c.3247C>T	ENSP00000497203.1:p.Gln1083Ter
ENST00000003084.10:c.3430C>T	ENSP00000003084.6:p.Gln1144Ter
ENST00000426809.5:c.3340C>T	ENSP00000389119.1:p.Gln1114Ter
ENST00000468795.1:c.255C>T
NM_000492.3:c.3430C>T , LRG_663t1:c.3430C>T	NP_000483.3:p.Gln1144Ter
XM_011515751.1:c.3520C>T	XP_011514053.1:p.Gln1174Ter
XM_011515752.1:c.3520C>T	XP_011514054.1:p.Gln1174Ter
XM_011515753.1:c.3187C>T	XP_011514055.1:p.Gln1063Ter
XM_011515754.1:c.3187C>T	XP_011514056.1:p.Gln1063Ter
NM_000492.4:c.3430C>T MANE Select	NP_000483.3:p.Gln1144Ter