Canonical Allele Identifier: CA368984401

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117306971G>C (hg19) ; chr7:g.117666917G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666917G>C , CM000669.2:g.117666917G>C	GRCh38
NC_000007.13:g.117306971G>C , CM000669.1:g.117306971G>C	GRCh37
NC_000007.12:g.117094207G>C	NCBI36
NG_016465.4:g.206134G>C , LRG_663:g.206134G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*461G>C	ENSP00000497673.2:n.*461G>C
ENST00000647978.2:c.*3966G>C	ENSP00000497658.1:n.*3966G>C
ENST00000649781.2:c.4069G>C	ENSP00000497203.1:p.Glu1357Gln
ENST00000685018.2:c.*465G>C	ENSP00000510194.2:n.*465G>C
ENST00000687278.2:c.*896-685G>C	ENSP00000509593.2:n.*896-685G>C
ENST00000699585.1:c.*721G>C	ENSP00000514456.1:n.*721G>C
ENST00000699598.1:c.4245G>C	ENSP00000514467.1:p.Lys1415Asn
ENST00000699599.1:c.*465G>C	ENSP00000514468.1:n.*465G>C
ENST00000699600.1:c.*904-685G>C	ENSP00000514469.1:n.*904-685G>C
ENST00000699601.1:c.*2627G>C	ENSP00000514470.1:n.*2627G>C
ENST00000699602.1:c.4246G>C	ENSP00000514471.1:p.Glu1416Gln
ENST00000699604.1:c.*4076G>C	ENSP00000514472.1:n.*4076G>C
ENST00000699605.1:c.3826G>C	ENSP00000514473.1:p.Glu1276Gln
ENST00000699606.1:n.3763G>C
ENST00000685018.1:c.1116G>C	ENSP00000510194.1:n.1116G>C
ENST00000687278.1:c.2030-685G>C	ENSP00000509593.1:n.2030-685G>C
ENST00000689011.1:c.1094G>C
ENST00000003084.11:c.4252G>C MANE Select	ENSP00000003084.6:p.Glu1418Gln
ENST00000647720.1:c.1702G>C
ENST00000649781.1:c.4069G>C	ENSP00000497203.1:p.Glu1357Gln
ENST00000003084.10:c.4252G>C	ENSP00000003084.6:p.Glu1418Gln
ENST00000426809.5:c.4162G>C	ENSP00000389119.1:p.Glu1388Gln
ENST00000600166.1:c.368+1353G>C
NM_000492.3:c.4252G>C , LRG_663t1:c.4252G>C	NP_000483.3:p.Glu1418Gln
XM_011515751.1:c.4342G>C	XP_011514053.1:p.Glu1448Gln
XM_011515753.1:c.4009G>C	XP_011514055.1:p.Glu1337Gln
XM_011515754.1:c.4009G>C	XP_011514056.1:p.Glu1337Gln
NM_000492.4:c.4252G>C MANE Select	NP_000483.3:p.Glu1418Gln