Canonical Allele Identifier: CA368974436

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282499T>C (hg19) ; chr7:g.117642445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642445T>C , CM000669.2:g.117642445T>C	GRCh38
NC_000007.13:g.117282499T>C , CM000669.1:g.117282499T>C	GRCh37
NC_000007.12:g.117069735T>C	NCBI36
NG_016465.4:g.181662T>C , LRG_663:g.181662T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3525T>C	ENSP00000497673.2:p.Pro1175=
ENST00000647978.2:c.*3439T>C	ENSP00000497658.1:n.*3439T>C
ENST00000649781.2:c.3542T>C	ENSP00000497203.1:p.Leu1181Pro
ENST00000685018.2:c.3725T>C	ENSP00000510194.2:p.Leu1242Pro
ENST00000687278.2:c.*378T>C	ENSP00000509593.2:n.*378T>C
ENST00000699585.1:c.3525T>C	ENSP00000514456.1:p.Pro1175=
ENST00000699598.1:c.3725T>C	ENSP00000514467.1:p.Leu1242Pro
ENST00000699599.1:c.3725T>C	ENSP00000514468.1:p.Leu1242Pro
ENST00000699600.1:c.*386T>C	ENSP00000514469.1:n.*386T>C
ENST00000699601.1:c.*2100T>C	ENSP00000514470.1:n.*2100T>C
ENST00000699602.1:c.3719T>C	ENSP00000514471.1:p.Leu1240Pro
ENST00000699604.1:c.*3549T>C	ENSP00000514472.1:n.*3549T>C
ENST00000699605.1:c.3299T>C	ENSP00000514473.1:p.Leu1100Pro
ENST00000685018.1:c.473T>C	ENSP00000510194.1:p.Leu158Pro
ENST00000687278.1:c.1512T>C	ENSP00000509593.1:n.1512T>C
ENST00000689011.1:c.307T>C
ENST00000003084.11:c.3725T>C MANE Select	ENSP00000003084.6:p.Leu1242Pro
ENST00000647720.1:c.1175T>C
ENST00000649781.1:c.3542T>C	ENSP00000497203.1:p.Leu1181Pro
ENST00000003084.10:c.3725T>C	ENSP00000003084.6:p.Leu1242Pro
ENST00000426809.5:c.3635T>C	ENSP00000389119.1:p.Leu1212Pro
NM_000492.3:c.3725T>C , LRG_663t1:c.3725T>C	NP_000483.3:p.Leu1242Pro
XM_011515751.1:c.3815T>C	XP_011514053.1:p.Leu1272Pro
XM_011515752.1:c.3815T>C	XP_011514054.1:p.Leu1272Pro
XM_011515753.1:c.3482T>C	XP_011514055.1:p.Leu1161Pro
XM_011515754.1:c.3482T>C	XP_011514056.1:p.Leu1161Pro
NM_000492.4:c.3725T>C MANE Select	NP_000483.3:p.Leu1242Pro