Canonical Allele Identifier: CA368978423

Gene: CFTR

Linked Data

• ClinVar Variation Id: 632765
• ClinVar RCV Id: RCV000780168
• dbSNP Id: rs779201407
• MyVariant Identifiers: chr7:g.117180231T>A (hg19) ; chr7:g.117540177T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540177T>A , CM000669.2:g.117540177T>A	GRCh38
NC_000007.13:g.117180231T>A , CM000669.1:g.117180231T>A	GRCh37
NC_000007.12:g.116967467T>A	NCBI36
NG_016465.4:g.79394T>A , LRG_663:g.79394T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.947T>A	ENSP00000497673.2:p.Phe316Tyr
ENST00000647978.2:c.*844T>A	ENSP00000497658.1:n.*844T>A
ENST00000649781.2:c.947T>A	ENSP00000497203.1:p.Phe316Tyr
ENST00000685018.2:c.947T>A	ENSP00000510194.2:p.Phe316Tyr
ENST00000687278.2:c.947T>A	ENSP00000509593.2:p.Phe316Tyr
ENST00000699585.1:c.947T>A	ENSP00000514456.1:p.Phe316Tyr
ENST00000699596.1:c.947T>A	ENSP00000514465.1:p.Phe316Tyr
ENST00000699597.1:c.947T>A	ENSP00000514466.1:p.Phe316Tyr
ENST00000699598.1:c.947T>A	ENSP00000514467.1:p.Phe316Tyr
ENST00000699599.1:c.947T>A	ENSP00000514468.1:p.Phe316Tyr
ENST00000699600.1:c.947T>A	ENSP00000514469.1:p.Phe316Tyr
ENST00000699601.1:c.947T>A	ENSP00000514470.1:p.Phe316Tyr
ENST00000699602.1:c.947T>A	ENSP00000514471.1:p.Phe316Tyr
ENST00000699604.1:c.*771T>A	ENSP00000514472.1:n.*771T>A
ENST00000699605.1:c.704T>A	ENSP00000514473.1:p.Phe235Tyr
ENST00000003084.11:c.947T>A MANE Select	ENSP00000003084.6:p.Phe316Tyr
ENST00000647978.1:c.*844T>A	ENSP00000497658.1:n.*844T>A
ENST00000648260.1:c.947T>A	ENSP00000497957.1:p.Phe316Tyr
ENST00000649406.1:c.947T>A	ENSP00000497965.1:p.Phe316Tyr
ENST00000649781.1:c.947T>A	ENSP00000497203.1:p.Phe316Tyr
ENST00000673785.1:c.704T>A	ENSP00000501235.1:p.Phe235Tyr
ENST00000003084.10:c.947T>A	ENSP00000003084.6:p.Phe316Tyr
ENST00000426809.5:c.857T>A	ENSP00000389119.1:p.Phe286Tyr
NM_000492.3:c.947T>A , LRG_663t1:c.947T>A	NP_000483.3:p.Phe316Tyr
XM_011515751.1:c.1037T>A	XP_011514053.1:p.Phe346Tyr
XM_011515752.1:c.1037T>A	XP_011514054.1:p.Phe346Tyr
XM_011515753.1:c.704T>A	XP_011514055.1:p.Phe235Tyr
XM_011515754.1:c.704T>A	XP_011514056.1:p.Phe235Tyr
NM_000492.4:c.947T>A MANE Select	NP_000483.3:p.Phe316Tyr