Canonical Allele Identifier: CA457230810

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305540A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665486A>C , CM000669.2:g.117665486A>C	GRCh38
NC_000007.13:g.117305540A>C , CM000669.1:g.117305540A>C	GRCh37
NC_000007.12:g.117092776A>C	NCBI36
NG_016465.4:g.204703A>C , LRG_663:g.204703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*373A>C	ENSP00000497673.2:n.*373A>C
ENST00000647978.2:c.*3878A>C	ENSP00000497658.1:n.*3878A>C
ENST00000649781.2:c.3981A>C	ENSP00000497203.1:p.Leu1327=
ENST00000685018.2:c.*377A>C	ENSP00000510194.2:n.*377A>C
ENST00000687278.2:c.*817A>C	ENSP00000509593.2:n.*817A>C
ENST00000699585.1:c.*373A>C	ENSP00000514456.1:n.*373A>C
ENST00000699598.1:c.4164A>C	ENSP00000514467.1:p.Leu1388=
ENST00000699599.1:c.*377A>C	ENSP00000514468.1:n.*377A>C
ENST00000699600.1:c.*825A>C	ENSP00000514469.1:n.*825A>C
ENST00000699601.1:c.*2539A>C	ENSP00000514470.1:n.*2539A>C
ENST00000699602.1:c.4158A>C	ENSP00000514471.1:p.Leu1386=
ENST00000699604.1:c.*3988A>C	ENSP00000514472.1:n.*3988A>C
ENST00000699605.1:c.3738A>C	ENSP00000514473.1:p.Leu1246=
ENST00000699606.1:n.2332A>C
ENST00000685018.1:c.1028A>C	ENSP00000510194.1:n.1028A>C
ENST00000687278.1:c.1951A>C	ENSP00000509593.1:n.1951A>C
ENST00000689011.1:c.746A>C
ENST00000003084.11:c.4164A>C MANE Select	ENSP00000003084.6:p.Leu1388=
ENST00000647720.1:c.1614A>C
ENST00000649781.1:c.3981A>C	ENSP00000497203.1:p.Leu1327=
ENST00000003084.10:c.4164A>C	ENSP00000003084.6:p.Leu1388=
ENST00000426809.5:c.4074A>C	ENSP00000389119.1:p.Leu1358=
ENST00000600166.1:c.290A>C
NM_000492.3:c.4164A>C , LRG_663t1:c.4164A>C	NP_000483.3:p.Leu1388=
XM_011515751.1:c.4254A>C	XP_011514053.1:p.Leu1418=
XM_011515752.1:c.4254A>C	XP_011514054.1:p.Leu1418=
XM_011515753.1:c.3921A>C	XP_011514055.1:p.Leu1307=
XM_011515754.1:c.3921A>C	XP_011514056.1:p.Leu1307=
NM_000492.4:c.4164A>C MANE Select	NP_000483.3:p.Leu1388=