Canonical Allele Identifier: CA368993436

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117254705G>C (hg19) ; chr7:g.117614651G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614651G>C , CM000669.2:g.117614651G>C	GRCh38
NC_000007.13:g.117254705G>C , CM000669.1:g.117254705G>C	GRCh37
NC_000007.12:g.117041941G>C	NCBI36
NG_016465.4:g.153868G>C , LRG_663:g.153868G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3406G>C	ENSP00000497673.2:p.Ala1136Pro
ENST00000647978.2:c.*3120G>C	ENSP00000497658.1:n.*3120G>C
ENST00000649781.2:c.3223G>C	ENSP00000497203.1:p.Ala1075Pro
ENST00000685018.2:c.3406G>C	ENSP00000510194.2:p.Ala1136Pro
ENST00000687278.2:c.3406G>C	ENSP00000509593.2:p.Ala1136Pro
ENST00000699585.1:c.3406G>C	ENSP00000514456.1:p.Ala1136Pro
ENST00000699598.1:c.3406G>C	ENSP00000514467.1:p.Ala1136Pro
ENST00000699599.1:c.3406G>C	ENSP00000514468.1:p.Ala1136Pro
ENST00000699600.1:c.3406G>C	ENSP00000514469.1:p.Ala1136Pro
ENST00000699601.1:c.*1781G>C	ENSP00000514470.1:n.*1781G>C
ENST00000699602.1:c.3400G>C	ENSP00000514471.1:p.Ala1134Pro
ENST00000699604.1:c.*3230G>C	ENSP00000514472.1:n.*3230G>C
ENST00000699605.1:c.2980G>C	ENSP00000514473.1:p.Ala994Pro
ENST00000685018.1:c.154G>C	ENSP00000510194.1:p.Ala52Pro
ENST00000687278.1:c.997G>C	ENSP00000509593.1:p.Ala333Pro
ENST00000003084.11:c.3406G>C MANE Select	ENSP00000003084.6:p.Ala1136Pro
ENST00000647720.1:c.1056G>C
ENST00000648260.1:c.2188G>C	ENSP00000497957.1:p.Ala730Pro
ENST00000649406.1:c.3223G>C	ENSP00000497965.1:p.Ala1075Pro
ENST00000649781.1:c.3223G>C	ENSP00000497203.1:p.Ala1075Pro
ENST00000003084.10:c.3406G>C	ENSP00000003084.6:p.Ala1136Pro
ENST00000426809.5:c.3316G>C	ENSP00000389119.1:p.Ala1106Pro
ENST00000468795.1:c.231G>C
NM_000492.3:c.3406G>C , LRG_663t1:c.3406G>C	NP_000483.3:p.Ala1136Pro
XM_011515751.1:c.3496G>C	XP_011514053.1:p.Ala1166Pro
XM_011515752.1:c.3496G>C	XP_011514054.1:p.Ala1166Pro
XM_011515753.1:c.3163G>C	XP_011514055.1:p.Ala1055Pro
XM_011515754.1:c.3163G>C	XP_011514056.1:p.Ala1055Pro
NM_000492.4:c.3406G>C MANE Select	NP_000483.3:p.Ala1136Pro