Canonical Allele Identifier: CA368984409

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117306973G>C (hg19) ; chr7:g.117666919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666919G>C , CM000669.2:g.117666919G>C	GRCh38
NC_000007.13:g.117306973G>C , CM000669.1:g.117306973G>C	GRCh37
NC_000007.12:g.117094209G>C	NCBI36
NG_016465.4:g.206136G>C , LRG_663:g.206136G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*463G>C	ENSP00000497673.2:n.*463G>C
ENST00000647978.2:c.*3968G>C	ENSP00000497658.1:n.*3968G>C
ENST00000649781.2:c.4071G>C	ENSP00000497203.1:p.Glu1357Asp
ENST00000685018.2:c.*467G>C	ENSP00000510194.2:n.*467G>C
ENST00000687278.2:c.*896-683G>C	ENSP00000509593.2:n.*896-683G>C
ENST00000699585.1:c.*723G>C	ENSP00000514456.1:n.*723G>C
ENST00000699598.1:c.4247G>C	ENSP00000514467.1:p.Arg1416Thr
ENST00000699599.1:c.*467G>C	ENSP00000514468.1:n.*467G>C
ENST00000699600.1:c.*904-683G>C	ENSP00000514469.1:n.*904-683G>C
ENST00000699601.1:c.*2629G>C	ENSP00000514470.1:n.*2629G>C
ENST00000699602.1:c.4248G>C	ENSP00000514471.1:p.Glu1416Asp
ENST00000699604.1:c.*4078G>C	ENSP00000514472.1:n.*4078G>C
ENST00000699605.1:c.3828G>C	ENSP00000514473.1:p.Glu1276Asp
ENST00000699606.1:n.3765G>C
ENST00000685018.1:c.1118G>C	ENSP00000510194.1:n.1118G>C
ENST00000687278.1:c.2030-683G>C	ENSP00000509593.1:n.2030-683G>C
ENST00000689011.1:c.1096G>C
ENST00000003084.11:c.4254G>C MANE Select	ENSP00000003084.6:p.Glu1418Asp
ENST00000647720.1:c.1704G>C
ENST00000649781.1:c.4071G>C	ENSP00000497203.1:p.Glu1357Asp
ENST00000003084.10:c.4254G>C	ENSP00000003084.6:p.Glu1418Asp
ENST00000426809.5:c.4164G>C	ENSP00000389119.1:p.Glu1388Asp
ENST00000600166.1:c.368+1355G>C
NM_000492.3:c.4254G>C , LRG_663t1:c.4254G>C	NP_000483.3:p.Glu1418Asp
XM_011515751.1:c.4344G>C	XP_011514053.1:p.Glu1448Asp
XM_011515753.1:c.4011G>C	XP_011514055.1:p.Glu1337Asp
XM_011515754.1:c.4011G>C	XP_011514056.1:p.Glu1337Asp
NM_000492.4:c.4254G>C MANE Select	NP_000483.3:p.Glu1418Asp