Canonical Allele Identifier: CA368979813

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117232337A>C (hg19) ; chr7:g.117592283A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592283A>C , CM000669.2:g.117592283A>C	GRCh38
NC_000007.13:g.117232337A>C , CM000669.1:g.117232337A>C	GRCh37
NC_000007.12:g.117019573A>C	NCBI36
NG_016465.4:g.131500A>C , LRG_663:g.131500A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2116A>C	ENSP00000497673.2:p.Asn706His
ENST00000647978.2:c.*1830A>C	ENSP00000497658.1:n.*1830A>C
ENST00000649781.2:c.1933A>C	ENSP00000497203.1:p.Asn645His
ENST00000685018.2:c.2116A>C	ENSP00000510194.2:p.Asn706His
ENST00000687278.2:c.2116A>C	ENSP00000509593.2:p.Asn706His
ENST00000699585.1:c.2116A>C	ENSP00000514456.1:p.Asn706His
ENST00000699598.1:c.2116A>C	ENSP00000514467.1:p.Asn706His
ENST00000699599.1:c.2116A>C	ENSP00000514468.1:p.Asn706His
ENST00000699600.1:c.2116A>C	ENSP00000514469.1:p.Asn706His
ENST00000699601.1:c.*416A>C	ENSP00000514470.1:n.*416A>C
ENST00000699602.1:c.2116A>C	ENSP00000514471.1:p.Asn706His
ENST00000699604.1:c.*1940A>C	ENSP00000514472.1:n.*1940A>C
ENST00000699605.1:c.1690A>C	ENSP00000514473.1:p.Asn564His
ENST00000003084.11:c.2116A>C MANE Select	ENSP00000003084.6:p.Asn706His
ENST00000647978.1:c.*1830A>C	ENSP00000497658.1:n.*1830A>C
ENST00000648260.1:c.1402-10543A>C	ENSP00000497957.1:n.1402-10543A>C
ENST00000649406.1:c.1933A>C	ENSP00000497965.1:p.Asn645His
ENST00000649781.1:c.1933A>C	ENSP00000497203.1:p.Asn645His
ENST00000003084.10:c.2116A>C	ENSP00000003084.6:p.Asn706His
ENST00000426809.5:c.2026A>C	ENSP00000389119.1:p.Asn676His
NM_000492.3:c.2116A>C , LRG_663t1:c.2116A>C	NP_000483.3:p.Asn706His
XM_011515751.1:c.2206A>C	XP_011514053.1:p.Asn736His
XM_011515752.1:c.2206A>C	XP_011514054.1:p.Asn736His
XM_011515753.1:c.1873A>C	XP_011514055.1:p.Asn625His
XM_011515754.1:c.1873A>C	XP_011514056.1:p.Asn625His
NM_000492.4:c.2116A>C MANE Select	NP_000483.3:p.Asn706His