Canonical Allele Identifier: CA457230003

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1728682
• ClinVar RCV Id: RCV002443326
• gnomAD v4: 7-117611633-A-T
• MyVariant Identifiers: chr7:g.117251687A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611633A>T , CM000669.2:g.117611633A>T	GRCh38
NC_000007.13:g.117251687A>T , CM000669.1:g.117251687A>T	GRCh37
NC_000007.12:g.117038923A>T	NCBI36
NG_016465.4:g.150850A>T , LRG_663:g.150850A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3192A>T	ENSP00000497673.2:p.Thr1064=
ENST00000647978.2:c.*2906A>T	ENSP00000497658.1:n.*2906A>T
ENST00000649781.2:c.3009A>T	ENSP00000497203.1:p.Thr1003=
ENST00000685018.2:c.3192A>T	ENSP00000510194.2:p.Thr1064=
ENST00000687278.2:c.3192A>T	ENSP00000509593.2:p.Thr1064=
ENST00000699585.1:c.3192A>T	ENSP00000514456.1:p.Thr1064=
ENST00000699598.1:c.3192A>T	ENSP00000514467.1:p.Thr1064=
ENST00000699599.1:c.3192A>T	ENSP00000514468.1:p.Thr1064=
ENST00000699600.1:c.3192A>T	ENSP00000514469.1:p.Thr1064=
ENST00000699601.1:c.*1492A>T	ENSP00000514470.1:n.*1492A>T
ENST00000699602.1:c.3192A>T	ENSP00000514471.1:p.Thr1064=
ENST00000699604.1:c.*3016A>T	ENSP00000514472.1:n.*3016A>T
ENST00000699605.1:c.2766A>T	ENSP00000514473.1:p.Thr922=
ENST00000687278.1:c.783A>T	ENSP00000509593.1:p.Thr261=
ENST00000003084.11:c.3192A>T MANE Select	ENSP00000003084.6:p.Thr1064=
ENST00000647720.1:c.842A>T
ENST00000648260.1:c.1974A>T	ENSP00000497957.1:p.Thr658=
ENST00000649406.1:c.3009A>T	ENSP00000497965.1:p.Thr1003=
ENST00000649781.1:c.3009A>T	ENSP00000497203.1:p.Thr1003=
ENST00000003084.10:c.3192A>T	ENSP00000003084.6:p.Thr1064=
ENST00000426809.5:c.3102A>T	ENSP00000389119.1:p.Thr1034=
ENST00000468795.1:c.17A>T
NM_000492.3:c.3192A>T , LRG_663t1:c.3192A>T	NP_000483.3:p.Thr1064=
XM_011515751.1:c.3282A>T	XP_011514053.1:p.Thr1094=
XM_011515752.1:c.3282A>T	XP_011514054.1:p.Thr1094=
XM_011515753.1:c.2949A>T	XP_011514055.1:p.Thr983=
XM_011515754.1:c.2949A>T	XP_011514056.1:p.Thr983=
NM_000492.4:c.3192A>T MANE Select	NP_000483.3:p.Thr1064=