Canonical Allele Identifier: CA368986492

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117243642T>C (hg19) ; chr7:g.117603588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603588T>C , CM000669.2:g.117603588T>C	GRCh38
NC_000007.13:g.117243642T>C , CM000669.1:g.117243642T>C	GRCh37
NC_000007.12:g.117030878T>C	NCBI36
NG_016465.4:g.142805T>C , LRG_663:g.142805T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2714T>C	ENSP00000497673.2:p.Val905Ala
ENST00000647978.2:c.*2428T>C	ENSP00000497658.1:n.*2428T>C
ENST00000649781.2:c.2531T>C	ENSP00000497203.1:p.Val844Ala
ENST00000685018.2:c.2714T>C	ENSP00000510194.2:p.Val905Ala
ENST00000687278.2:c.2714T>C	ENSP00000509593.2:p.Val905Ala
ENST00000699585.1:c.2714T>C	ENSP00000514456.1:p.Val905Ala
ENST00000699598.1:c.2714T>C	ENSP00000514467.1:p.Val905Ala
ENST00000699599.1:c.2714T>C	ENSP00000514468.1:p.Val905Ala
ENST00000699600.1:c.2714T>C	ENSP00000514469.1:p.Val905Ala
ENST00000699601.1:c.*1014T>C	ENSP00000514470.1:n.*1014T>C
ENST00000699602.1:c.2714T>C	ENSP00000514471.1:p.Val905Ala
ENST00000699604.1:c.*2538T>C	ENSP00000514472.1:n.*2538T>C
ENST00000699605.1:c.2288T>C	ENSP00000514473.1:p.Val763Ala
ENST00000687278.1:c.305T>C	ENSP00000509593.1:p.Val102Ala
ENST00000003084.11:c.2714T>C MANE Select	ENSP00000003084.6:p.Val905Ala
ENST00000647720.1:c.364T>C
ENST00000648260.1:c.1496T>C	ENSP00000497957.1:p.Val499Ala
ENST00000649406.1:c.2531T>C	ENSP00000497965.1:p.Val844Ala
ENST00000649781.1:c.2531T>C	ENSP00000497203.1:p.Val844Ala
ENST00000003084.10:c.2714T>C	ENSP00000003084.6:p.Val905Ala
ENST00000426809.5:c.2624T>C	ENSP00000389119.1:p.Val875Ala
NM_000492.3:c.2714T>C , LRG_663t1:c.2714T>C	NP_000483.3:p.Val905Ala
XM_011515751.1:c.2804T>C	XP_011514053.1:p.Val935Ala
XM_011515752.1:c.2804T>C	XP_011514054.1:p.Val935Ala
XM_011515753.1:c.2471T>C	XP_011514055.1:p.Val824Ala
XM_011515754.1:c.2471T>C	XP_011514056.1:p.Val824Ala
NM_000492.4:c.2714T>C MANE Select	NP_000483.3:p.Val905Ala