Canonical Allele Identifier: CA4451461

Gene: CFTR

Linked Data

• dbSNP Id: rs374202054
• ExAC: 7:117254744 T / C
• gnomAD v2: 7-117254744-T-C
• MyVariant Identifiers: chr7:g.117254744T>C (hg19) ; chr7:g.117614690T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614690T>C , CM000669.2:g.117614690T>C	GRCh38
NC_000007.13:g.117254744T>C , CM000669.1:g.117254744T>C	GRCh37
NC_000007.12:g.117041980T>C	NCBI36
NG_016465.4:g.153907T>C , LRG_663:g.153907T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3445T>C	ENSP00000497673.2:p.Ser1149Pro
ENST00000647978.2:c.*3159T>C	ENSP00000497658.1:n.*3159T>C
ENST00000649781.2:c.3262T>C	ENSP00000497203.1:p.Ser1088Pro
ENST00000685018.2:c.3445T>C	ENSP00000510194.2:p.Ser1149Pro
ENST00000687278.2:c.3445T>C	ENSP00000509593.2:p.Ser1149Pro
ENST00000699585.1:c.3445T>C	ENSP00000514456.1:p.Ser1149Pro
ENST00000699598.1:c.3445T>C	ENSP00000514467.1:p.Ser1149Pro
ENST00000699599.1:c.3445T>C	ENSP00000514468.1:p.Ser1149Pro
ENST00000699600.1:c.3445T>C	ENSP00000514469.1:p.Ser1149Pro
ENST00000699601.1:c.*1820T>C	ENSP00000514470.1:n.*1820T>C
ENST00000699602.1:c.3439T>C	ENSP00000514471.1:p.Ser1147Pro
ENST00000699604.1:c.*3269T>C	ENSP00000514472.1:n.*3269T>C
ENST00000699605.1:c.3019T>C	ENSP00000514473.1:p.Ser1007Pro
ENST00000685018.1:c.193T>C	ENSP00000510194.1:p.Ser65Pro
ENST00000687278.1:c.1036T>C	ENSP00000509593.1:p.Ser346Pro
ENST00000689011.1:c.27T>C
ENST00000003084.11:c.3445T>C MANE Select	ENSP00000003084.6:p.Ser1149Pro
ENST00000647720.1:c.1095T>C
ENST00000648260.1:c.2227T>C	ENSP00000497957.1:p.Ser743Pro
ENST00000649406.1:c.3262T>C	ENSP00000497965.1:p.Ser1088Pro
ENST00000649781.1:c.3262T>C	ENSP00000497203.1:p.Ser1088Pro
ENST00000003084.10:c.3445T>C	ENSP00000003084.6:p.Ser1149Pro
ENST00000426809.5:c.3355T>C	ENSP00000389119.1:p.Ser1119Pro
ENST00000468795.1:c.270T>C
NM_000492.3:c.3445T>C , LRG_663t1:c.3445T>C	NP_000483.3:p.Ser1149Pro
XM_011515751.1:c.3535T>C	XP_011514053.1:p.Ser1179Pro
XM_011515752.1:c.3535T>C	XP_011514054.1:p.Ser1179Pro
XM_011515753.1:c.3202T>C	XP_011514055.1:p.Ser1068Pro
XM_011515754.1:c.3202T>C	XP_011514056.1:p.Ser1068Pro
NM_000492.4:c.3445T>C MANE Select	NP_000483.3:p.Ser1149Pro