Canonical Allele Identifier: CA368979692

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2453670
• ClinVar RCV Id: RCV003187805
• MyVariant Identifiers: chr7:g.117232319T>C (hg19) ; chr7:g.117592265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592265T>C , CM000669.2:g.117592265T>C	GRCh38
NC_000007.13:g.117232319T>C , CM000669.1:g.117232319T>C	GRCh37
NC_000007.12:g.117019555T>C	NCBI36
NG_016465.4:g.131482T>C , LRG_663:g.131482T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2098T>C	ENSP00000497673.2:p.Ser700Pro
ENST00000647978.2:c.*1812T>C	ENSP00000497658.1:n.*1812T>C
ENST00000649781.2:c.1915T>C	ENSP00000497203.1:p.Ser639Pro
ENST00000685018.2:c.2098T>C	ENSP00000510194.2:p.Ser700Pro
ENST00000687278.2:c.2098T>C	ENSP00000509593.2:p.Ser700Pro
ENST00000699585.1:c.2098T>C	ENSP00000514456.1:p.Ser700Pro
ENST00000699598.1:c.2098T>C	ENSP00000514467.1:p.Ser700Pro
ENST00000699599.1:c.2098T>C	ENSP00000514468.1:p.Ser700Pro
ENST00000699600.1:c.2098T>C	ENSP00000514469.1:p.Ser700Pro
ENST00000699601.1:c.*398T>C	ENSP00000514470.1:n.*398T>C
ENST00000699602.1:c.2098T>C	ENSP00000514471.1:p.Ser700Pro
ENST00000699604.1:c.*1922T>C	ENSP00000514472.1:n.*1922T>C
ENST00000699605.1:c.1672T>C	ENSP00000514473.1:p.Ser558Pro
ENST00000003084.11:c.2098T>C MANE Select	ENSP00000003084.6:p.Ser700Pro
ENST00000647978.1:c.*1812T>C	ENSP00000497658.1:n.*1812T>C
ENST00000648260.1:c.1402-10561T>C	ENSP00000497957.1:n.1402-10561T>C
ENST00000649406.1:c.1915T>C	ENSP00000497965.1:p.Ser639Pro
ENST00000649781.1:c.1915T>C	ENSP00000497203.1:p.Ser639Pro
ENST00000003084.10:c.2098T>C	ENSP00000003084.6:p.Ser700Pro
ENST00000426809.5:c.2008T>C	ENSP00000389119.1:p.Ser670Pro
NM_000492.3:c.2098T>C , LRG_663t1:c.2098T>C	NP_000483.3:p.Ser700Pro
XM_011515751.1:c.2188T>C	XP_011514053.1:p.Ser730Pro
XM_011515752.1:c.2188T>C	XP_011514054.1:p.Ser730Pro
XM_011515753.1:c.1855T>C	XP_011514055.1:p.Ser619Pro
XM_011515754.1:c.1855T>C	XP_011514056.1:p.Ser619Pro
NM_000492.4:c.2098T>C MANE Select	NP_000483.3:p.Ser700Pro