Canonical Allele Identifier: CA457228079

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282534T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642480T>C , CM000669.2:g.117642480T>C	GRCh38
NC_000007.13:g.117282534T>C , CM000669.1:g.117282534T>C	GRCh37
NC_000007.12:g.117069770T>C	NCBI36
NG_016465.4:g.181697T>C , LRG_663:g.181697T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3560T>C	ENSP00000497673.2:p.Val1187Ala
ENST00000647978.2:c.*3474T>C	ENSP00000497658.1:n.*3474T>C
ENST00000649781.2:c.3577T>C	ENSP00000497203.1:p.Leu1193=
ENST00000685018.2:c.3760T>C	ENSP00000510194.2:p.Leu1254=
ENST00000687278.2:c.*413T>C	ENSP00000509593.2:n.*413T>C
ENST00000699585.1:c.3560T>C	ENSP00000514456.1:p.Val1187Ala
ENST00000699598.1:c.3760T>C	ENSP00000514467.1:p.Leu1254=
ENST00000699599.1:c.3760T>C	ENSP00000514468.1:p.Leu1254=
ENST00000699600.1:c.*421T>C	ENSP00000514469.1:n.*421T>C
ENST00000699601.1:c.*2135T>C	ENSP00000514470.1:n.*2135T>C
ENST00000699602.1:c.3754T>C	ENSP00000514471.1:p.Leu1252=
ENST00000699604.1:c.*3584T>C	ENSP00000514472.1:n.*3584T>C
ENST00000699605.1:c.3334T>C	ENSP00000514473.1:p.Leu1112=
ENST00000685018.1:c.508T>C	ENSP00000510194.1:p.Leu170=
ENST00000687278.1:c.1547T>C	ENSP00000509593.1:n.1547T>C
ENST00000689011.1:c.342T>C
ENST00000003084.11:c.3760T>C MANE Select	ENSP00000003084.6:p.Leu1254=
ENST00000647720.1:c.1210T>C
ENST00000649781.1:c.3577T>C	ENSP00000497203.1:p.Leu1193=
ENST00000003084.10:c.3760T>C	ENSP00000003084.6:p.Leu1254=
ENST00000426809.5:c.3670T>C	ENSP00000389119.1:p.Leu1224=
NM_000492.3:c.3760T>C , LRG_663t1:c.3760T>C	NP_000483.3:p.Leu1254=
XM_011515751.1:c.3850T>C	XP_011514053.1:p.Leu1284=
XM_011515752.1:c.3850T>C	XP_011514054.1:p.Leu1284=
XM_011515753.1:c.3517T>C	XP_011514055.1:p.Leu1173=
XM_011515754.1:c.3517T>C	XP_011514056.1:p.Leu1173=
NM_000492.4:c.3760T>C MANE Select	NP_000483.3:p.Leu1254=