Canonical Allele Identifier: CA368983326

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2050919
• ClinVar RCV Id: RCV002922149
• MyVariant Identifiers: chr7:g.117305518A>T (hg19) ; chr7:g.117665464A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665464A>T , CM000669.2:g.117665464A>T	GRCh38
NC_000007.13:g.117305518A>T , CM000669.1:g.117305518A>T	GRCh37
NC_000007.12:g.117092754A>T	NCBI36
NG_016465.4:g.204681A>T , LRG_663:g.204681A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*351A>T	ENSP00000497673.2:n.*351A>T
ENST00000647978.2:c.*3856A>T	ENSP00000497658.1:n.*3856A>T
ENST00000649781.2:c.3959A>T	ENSP00000497203.1:p.Tyr1320Phe
ENST00000685018.2:c.*355A>T	ENSP00000510194.2:n.*355A>T
ENST00000687278.2:c.*795A>T	ENSP00000509593.2:n.*795A>T
ENST00000699585.1:c.*351A>T	ENSP00000514456.1:n.*351A>T
ENST00000699598.1:c.4142A>T	ENSP00000514467.1:p.Tyr1381Phe
ENST00000699599.1:c.*355A>T	ENSP00000514468.1:n.*355A>T
ENST00000699600.1:c.*803A>T	ENSP00000514469.1:n.*803A>T
ENST00000699601.1:c.*2517A>T	ENSP00000514470.1:n.*2517A>T
ENST00000699602.1:c.4136A>T	ENSP00000514471.1:p.Tyr1379Phe
ENST00000699604.1:c.*3966A>T	ENSP00000514472.1:n.*3966A>T
ENST00000699605.1:c.3716A>T	ENSP00000514473.1:p.Tyr1239Phe
ENST00000699606.1:n.2310A>T
ENST00000685018.1:c.1006A>T	ENSP00000510194.1:n.1006A>T
ENST00000687278.1:c.1929A>T	ENSP00000509593.1:n.1929A>T
ENST00000689011.1:c.724A>T
ENST00000003084.11:c.4142A>T MANE Select	ENSP00000003084.6:p.Tyr1381Phe
ENST00000647720.1:c.1592A>T
ENST00000649781.1:c.3959A>T	ENSP00000497203.1:p.Tyr1320Phe
ENST00000003084.10:c.4142A>T	ENSP00000003084.6:p.Tyr1381Phe
ENST00000426809.5:c.4052A>T	ENSP00000389119.1:p.Tyr1351Phe
ENST00000600166.1:c.268A>T
NM_000492.3:c.4142A>T , LRG_663t1:c.4142A>T	NP_000483.3:p.Tyr1381Phe
XM_011515751.1:c.4232A>T	XP_011514053.1:p.Tyr1411Phe
XM_011515752.1:c.4232A>T	XP_011514054.1:p.Tyr1411Phe
XM_011515753.1:c.3899A>T	XP_011514055.1:p.Tyr1300Phe
XM_011515754.1:c.3899A>T	XP_011514056.1:p.Tyr1300Phe
NM_000492.4:c.4142A>T MANE Select	NP_000483.3:p.Tyr1381Phe