Canonical Allele Identifier: CA368984715

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307026T>C (hg19) ; chr7:g.117666972T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666972T>C , CM000669.2:g.117666972T>C	GRCh38
NC_000007.13:g.117307026T>C , CM000669.1:g.117307026T>C	GRCh37
NC_000007.12:g.117094262T>C	NCBI36
NG_016465.4:g.206189T>C , LRG_663:g.206189T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*516T>C	ENSP00000497673.2:n.*516T>C
ENST00000647978.2:c.*4021T>C	ENSP00000497658.1:n.*4021T>C
ENST00000649781.2:c.4124T>C	ENSP00000497203.1:p.Leu1375Pro
ENST00000685018.2:c.*520T>C	ENSP00000510194.2:n.*520T>C
ENST00000687278.2:c.*896-630T>C	ENSP00000509593.2:n.*896-630T>C
ENST00000699585.1:c.*776T>C	ENSP00000514456.1:n.*776T>C
ENST00000699598.1:c.*13T>C	ENSP00000514467.1:n.*13T>C
ENST00000699599.1:c.*520T>C	ENSP00000514468.1:n.*520T>C
ENST00000699600.1:c.*904-630T>C	ENSP00000514469.1:n.*904-630T>C
ENST00000699601.1:c.*2682T>C	ENSP00000514470.1:n.*2682T>C
ENST00000699602.1:c.4301T>C	ENSP00000514471.1:p.Leu1434Pro
ENST00000699604.1:c.*4131T>C	ENSP00000514472.1:n.*4131T>C
ENST00000699605.1:c.3881T>C	ENSP00000514473.1:p.Leu1294Pro
ENST00000699606.1:n.3818T>C
ENST00000685018.1:c.1171T>C	ENSP00000510194.1:n.1171T>C
ENST00000687278.1:c.2030-630T>C	ENSP00000509593.1:n.2030-630T>C
ENST00000689011.1:c.1149T>C
ENST00000003084.11:c.4307T>C MANE Select	ENSP00000003084.6:p.Leu1436Pro
ENST00000647720.1:c.1757T>C
ENST00000649781.1:c.4124T>C	ENSP00000497203.1:p.Leu1375Pro
ENST00000003084.10:c.4307T>C	ENSP00000003084.6:p.Leu1436Pro
ENST00000426809.5:c.4217T>C	ENSP00000389119.1:p.Leu1406Pro
ENST00000600166.1:c.368+1408T>C
NM_000492.3:c.4307T>C , LRG_663t1:c.4307T>C	NP_000483.3:p.Leu1436Pro
XM_011515751.1:c.4397T>C	XP_011514053.1:p.Leu1466Pro
XM_011515753.1:c.4064T>C	XP_011514055.1:p.Leu1355Pro
XM_011515754.1:c.4064T>C	XP_011514056.1:p.Leu1355Pro
NM_000492.4:c.4307T>C MANE Select	NP_000483.3:p.Leu1436Pro