Canonical Allele Identifier: CA368983646

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305575G>C (hg19) ; chr7:g.117665521G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665521G>C , CM000669.2:g.117665521G>C	GRCh38
NC_000007.13:g.117305575G>C , CM000669.1:g.117305575G>C	GRCh37
NC_000007.12:g.117092811G>C	NCBI36
NG_016465.4:g.204738G>C , LRG_663:g.204738G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*408G>C	ENSP00000497673.2:n.*408G>C
ENST00000647978.2:c.*3913G>C	ENSP00000497658.1:n.*3913G>C
ENST00000649781.2:c.4016G>C	ENSP00000497203.1:p.Cys1339Ser
ENST00000685018.2:c.*412G>C	ENSP00000510194.2:n.*412G>C
ENST00000687278.2:c.*852G>C	ENSP00000509593.2:n.*852G>C
ENST00000699585.1:c.*408G>C	ENSP00000514456.1:n.*408G>C
ENST00000699598.1:c.4199G>C	ENSP00000514467.1:p.Cys1400Ser
ENST00000699599.1:c.*412G>C	ENSP00000514468.1:n.*412G>C
ENST00000699600.1:c.*860G>C	ENSP00000514469.1:n.*860G>C
ENST00000699601.1:c.*2574G>C	ENSP00000514470.1:n.*2574G>C
ENST00000699602.1:c.4193G>C	ENSP00000514471.1:p.Cys1398Ser
ENST00000699604.1:c.*4023G>C	ENSP00000514472.1:n.*4023G>C
ENST00000699605.1:c.3773G>C	ENSP00000514473.1:p.Cys1258Ser
ENST00000699606.1:n.2367G>C
ENST00000685018.1:c.1063G>C	ENSP00000510194.1:n.1063G>C
ENST00000687278.1:c.1986G>C	ENSP00000509593.1:n.1986G>C
ENST00000689011.1:c.781G>C
ENST00000003084.11:c.4199G>C MANE Select	ENSP00000003084.6:p.Cys1400Ser
ENST00000647720.1:c.1649G>C
ENST00000649781.1:c.4016G>C	ENSP00000497203.1:p.Cys1339Ser
ENST00000003084.10:c.4199G>C	ENSP00000003084.6:p.Cys1400Ser
ENST00000426809.5:c.4109G>C	ENSP00000389119.1:p.Cys1370Ser
ENST00000600166.1:c.325G>C
NM_000492.3:c.4199G>C , LRG_663t1:c.4199G>C	NP_000483.3:p.Cys1400Ser
XM_011515751.1:c.4289G>C	XP_011514053.1:p.Cys1430Ser
XM_011515752.1:c.4289G>C	XP_011514054.1:p.Cys1430Ser
XM_011515753.1:c.3956G>C	XP_011514055.1:p.Cys1319Ser
XM_011515754.1:c.3956G>C	XP_011514056.1:p.Cys1319Ser
NM_000492.4:c.4199G>C MANE Select	NP_000483.3:p.Cys1400Ser