Canonical Allele Identifier: CA368984403

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117306972A>C (hg19) ; chr7:g.117666918A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666918A>C , CM000669.2:g.117666918A>C	GRCh38
NC_000007.13:g.117306972A>C , CM000669.1:g.117306972A>C	GRCh37
NC_000007.12:g.117094208A>C	NCBI36
NG_016465.4:g.206135A>C , LRG_663:g.206135A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*462A>C	ENSP00000497673.2:n.*462A>C
ENST00000647978.2:c.*3967A>C	ENSP00000497658.1:n.*3967A>C
ENST00000649781.2:c.4070A>C	ENSP00000497203.1:p.Glu1357Ala
ENST00000685018.2:c.*466A>C	ENSP00000510194.2:n.*466A>C
ENST00000687278.2:c.*896-684A>C	ENSP00000509593.2:n.*896-684A>C
ENST00000699585.1:c.*722A>C	ENSP00000514456.1:n.*722A>C
ENST00000699598.1:c.4246A>C	ENSP00000514467.1:p.Arg1416=
ENST00000699599.1:c.*466A>C	ENSP00000514468.1:n.*466A>C
ENST00000699600.1:c.*904-684A>C	ENSP00000514469.1:n.*904-684A>C
ENST00000699601.1:c.*2628A>C	ENSP00000514470.1:n.*2628A>C
ENST00000699602.1:c.4247A>C	ENSP00000514471.1:p.Glu1416Ala
ENST00000699604.1:c.*4077A>C	ENSP00000514472.1:n.*4077A>C
ENST00000699605.1:c.3827A>C	ENSP00000514473.1:p.Glu1276Ala
ENST00000699606.1:n.3764A>C
ENST00000685018.1:c.1117A>C	ENSP00000510194.1:n.1117A>C
ENST00000687278.1:c.2030-684A>C	ENSP00000509593.1:n.2030-684A>C
ENST00000689011.1:c.1095A>C
ENST00000003084.11:c.4253A>C MANE Select	ENSP00000003084.6:p.Glu1418Ala
ENST00000647720.1:c.1703A>C
ENST00000649781.1:c.4070A>C	ENSP00000497203.1:p.Glu1357Ala
ENST00000003084.10:c.4253A>C	ENSP00000003084.6:p.Glu1418Ala
ENST00000426809.5:c.4163A>C	ENSP00000389119.1:p.Glu1388Ala
ENST00000600166.1:c.368+1354A>C
NM_000492.3:c.4253A>C , LRG_663t1:c.4253A>C	NP_000483.3:p.Glu1418Ala
XM_011515751.1:c.4343A>C	XP_011514053.1:p.Glu1448Ala
XM_011515753.1:c.4010A>C	XP_011514055.1:p.Glu1337Ala
XM_011515754.1:c.4010A>C	XP_011514056.1:p.Glu1337Ala
NM_000492.4:c.4253A>C MANE Select	NP_000483.3:p.Glu1418Ala