Canonical Allele Identifier: CA368992410

Gene: CFTR

Linked Data

• ClinVar Variation Id: 3064503
• ClinVar RCV Id: RCV003989043
• MyVariant Identifiers: chr7:g.117251788G>C (hg19) ; chr7:g.117611734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611734G>C , CM000669.2:g.117611734G>C	GRCh38
NC_000007.13:g.117251788G>C , CM000669.1:g.117251788G>C	GRCh37
NC_000007.12:g.117039024G>C	NCBI36
NG_016465.4:g.150951G>C , LRG_663:g.150951G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3293G>C	ENSP00000497673.2:p.Trp1098Ser
ENST00000647978.2:c.*3007G>C	ENSP00000497658.1:n.*3007G>C
ENST00000649781.2:c.3110G>C	ENSP00000497203.1:p.Trp1037Ser
ENST00000685018.2:c.3293G>C	ENSP00000510194.2:p.Trp1098Ser
ENST00000687278.2:c.3293G>C	ENSP00000509593.2:p.Trp1098Ser
ENST00000699585.1:c.3293G>C	ENSP00000514456.1:p.Trp1098Ser
ENST00000699598.1:c.3293G>C	ENSP00000514467.1:p.Trp1098Ser
ENST00000699599.1:c.3293G>C	ENSP00000514468.1:p.Trp1098Ser
ENST00000699600.1:c.3293G>C	ENSP00000514469.1:p.Trp1098Ser
ENST00000699601.1:c.*1593G>C	ENSP00000514470.1:n.*1593G>C
ENST00000699602.1:c.3293G>C	ENSP00000514471.1:p.Trp1098Ser
ENST00000699604.1:c.*3117G>C	ENSP00000514472.1:n.*3117G>C
ENST00000699605.1:c.2867G>C	ENSP00000514473.1:p.Trp956Ser
ENST00000685018.1:c.41G>C	ENSP00000510194.1:p.Trp14Ser
ENST00000687278.1:c.884G>C	ENSP00000509593.1:p.Trp295Ser
ENST00000003084.11:c.3293G>C MANE Select	ENSP00000003084.6:p.Trp1098Ser
ENST00000647720.1:c.943G>C
ENST00000648260.1:c.2075G>C	ENSP00000497957.1:p.Trp692Ser
ENST00000649406.1:c.3110G>C	ENSP00000497965.1:p.Trp1037Ser
ENST00000649781.1:c.3110G>C	ENSP00000497203.1:p.Trp1037Ser
ENST00000003084.10:c.3293G>C	ENSP00000003084.6:p.Trp1098Ser
ENST00000426809.5:c.3203G>C	ENSP00000389119.1:p.Trp1068Ser
ENST00000468795.1:c.118G>C
NM_000492.3:c.3293G>C , LRG_663t1:c.3293G>C	NP_000483.3:p.Trp1098Ser
XM_011515751.1:c.3383G>C	XP_011514053.1:p.Trp1128Ser
XM_011515752.1:c.3383G>C	XP_011514054.1:p.Trp1128Ser
XM_011515753.1:c.3050G>C	XP_011514055.1:p.Trp1017Ser
XM_011515754.1:c.3050G>C	XP_011514056.1:p.Trp1017Ser
NM_000492.4:c.3293G>C MANE Select	NP_000483.3:p.Trp1098Ser