Canonical Allele Identifier: CA457227942

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1795314
• ClinVar RCV Id: RCV002437499
• MyVariant Identifiers: chr7:g.117243661T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603607T>C , CM000669.2:g.117603607T>C	GRCh38
NC_000007.13:g.117243661T>C , CM000669.1:g.117243661T>C	GRCh37
NC_000007.12:g.117030897T>C	NCBI36
NG_016465.4:g.142824T>C , LRG_663:g.142824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2733T>C	ENSP00000497673.2:p.Ser911=
ENST00000647978.2:c.*2447T>C	ENSP00000497658.1:n.*2447T>C
ENST00000649781.2:c.2550T>C	ENSP00000497203.1:p.Ser850=
ENST00000685018.2:c.2733T>C	ENSP00000510194.2:p.Ser911=
ENST00000687278.2:c.2733T>C	ENSP00000509593.2:p.Ser911=
ENST00000699585.1:c.2733T>C	ENSP00000514456.1:p.Ser911=
ENST00000699598.1:c.2733T>C	ENSP00000514467.1:p.Ser911=
ENST00000699599.1:c.2733T>C	ENSP00000514468.1:p.Ser911=
ENST00000699600.1:c.2733T>C	ENSP00000514469.1:p.Ser911=
ENST00000699601.1:c.*1033T>C	ENSP00000514470.1:n.*1033T>C
ENST00000699602.1:c.2733T>C	ENSP00000514471.1:p.Ser911=
ENST00000699604.1:c.*2557T>C	ENSP00000514472.1:n.*2557T>C
ENST00000699605.1:c.2307T>C	ENSP00000514473.1:p.Ser769=
ENST00000687278.1:c.324T>C	ENSP00000509593.1:p.Ser108=
ENST00000003084.11:c.2733T>C MANE Select	ENSP00000003084.6:p.Ser911=
ENST00000647720.1:c.383T>C
ENST00000648260.1:c.1515T>C	ENSP00000497957.1:p.Ser505=
ENST00000649406.1:c.2550T>C	ENSP00000497965.1:p.Ser850=
ENST00000649781.1:c.2550T>C	ENSP00000497203.1:p.Ser850=
ENST00000003084.10:c.2733T>C	ENSP00000003084.6:p.Ser911=
ENST00000426809.5:c.2643T>C	ENSP00000389119.1:p.Ser881=
NM_000492.3:c.2733T>C , LRG_663t1:c.2733T>C	NP_000483.3:p.Ser911=
XM_011515751.1:c.2823T>C	XP_011514053.1:p.Ser941=
XM_011515752.1:c.2823T>C	XP_011514054.1:p.Ser941=
XM_011515753.1:c.2490T>C	XP_011514055.1:p.Ser830=
XM_011515754.1:c.2490T>C	XP_011514056.1:p.Ser830=
NM_000492.4:c.2733T>C MANE Select	NP_000483.3:p.Ser911=