Canonical Allele Identifier: CA368975428

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2567875
• ClinVar RCV Id: RCV003283388
• MyVariant Identifiers: chr7:g.117282616A>C (hg19) ; chr7:g.117642562A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642562A>C , CM000669.2:g.117642562A>C	GRCh38
NC_000007.13:g.117282616A>C , CM000669.1:g.117282616A>C	GRCh37
NC_000007.12:g.117069852A>C	NCBI36
NG_016465.4:g.181779A>C , LRG_663:g.181779A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*51A>C	ENSP00000497673.2:n.*51A>C
ENST00000647978.2:c.*3556A>C	ENSP00000497658.1:n.*3556A>C
ENST00000649781.2:c.3659A>C	ENSP00000497203.1:p.Gln1220Pro
ENST00000685018.2:c.3842A>C	ENSP00000510194.2:p.Gln1281Pro
ENST00000687278.2:c.*495A>C	ENSP00000509593.2:n.*495A>C
ENST00000699585.1:c.*51A>C	ENSP00000514456.1:n.*51A>C
ENST00000699598.1:c.3842A>C	ENSP00000514467.1:p.Gln1281Pro
ENST00000699599.1:c.3842A>C	ENSP00000514468.1:p.Gln1281Pro
ENST00000699600.1:c.*503A>C	ENSP00000514469.1:n.*503A>C
ENST00000699601.1:c.*2217A>C	ENSP00000514470.1:n.*2217A>C
ENST00000699602.1:c.3836A>C	ENSP00000514471.1:p.Gln1279Pro
ENST00000699604.1:c.*3666A>C	ENSP00000514472.1:n.*3666A>C
ENST00000699605.1:c.3416A>C	ENSP00000514473.1:p.Gln1139Pro
ENST00000685018.1:c.590A>C	ENSP00000510194.1:p.Gln197Pro
ENST00000687278.1:c.1629A>C	ENSP00000509593.1:n.1629A>C
ENST00000689011.1:c.424A>C
ENST00000003084.11:c.3842A>C MANE Select	ENSP00000003084.6:p.Gln1281Pro
ENST00000647720.1:c.1292A>C
ENST00000649781.1:c.3659A>C	ENSP00000497203.1:p.Gln1220Pro
ENST00000003084.10:c.3842A>C	ENSP00000003084.6:p.Gln1281Pro
ENST00000426809.5:c.3752A>C	ENSP00000389119.1:p.Gln1251Pro
NM_000492.3:c.3842A>C , LRG_663t1:c.3842A>C	NP_000483.3:p.Gln1281Pro
XM_011515751.1:c.3932A>C	XP_011514053.1:p.Gln1311Pro
XM_011515752.1:c.3932A>C	XP_011514054.1:p.Gln1311Pro
XM_011515753.1:c.3599A>C	XP_011514055.1:p.Gln1200Pro
XM_011515754.1:c.3599A>C	XP_011514056.1:p.Gln1200Pro
NM_000492.4:c.3842A>C MANE Select	NP_000483.3:p.Gln1281Pro