Canonical Allele Identifier: CA368993721

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117254759G>C (hg19) ; chr7:g.117614705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614705G>C , CM000669.2:g.117614705G>C	GRCh38
NC_000007.13:g.117254759G>C , CM000669.1:g.117254759G>C	GRCh37
NC_000007.12:g.117041995G>C	NCBI36
NG_016465.4:g.153922G>C , LRG_663:g.153922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3460G>C	ENSP00000497673.2:p.Asp1154His
ENST00000647978.2:c.*3174G>C	ENSP00000497658.1:n.*3174G>C
ENST00000649781.2:c.3277G>C	ENSP00000497203.1:p.Asp1093His
ENST00000685018.2:c.3460G>C	ENSP00000510194.2:p.Asp1154His
ENST00000687278.2:c.3460G>C	ENSP00000509593.2:p.Asp1154His
ENST00000699585.1:c.3460G>C	ENSP00000514456.1:p.Asp1154His
ENST00000699598.1:c.3460G>C	ENSP00000514467.1:p.Asp1154His
ENST00000699599.1:c.3460G>C	ENSP00000514468.1:p.Asp1154His
ENST00000699600.1:c.3460G>C	ENSP00000514469.1:p.Asp1154His
ENST00000699601.1:c.*1835G>C	ENSP00000514470.1:n.*1835G>C
ENST00000699602.1:c.3454G>C	ENSP00000514471.1:p.Asp1152His
ENST00000699604.1:c.*3284G>C	ENSP00000514472.1:n.*3284G>C
ENST00000699605.1:c.3034G>C	ENSP00000514473.1:p.Asp1012His
ENST00000685018.1:c.208G>C	ENSP00000510194.1:p.Asp70His
ENST00000687278.1:c.1051G>C	ENSP00000509593.1:p.Asp351His
ENST00000689011.1:c.42G>C
ENST00000003084.11:c.3460G>C MANE Select	ENSP00000003084.6:p.Asp1154His
ENST00000647720.1:c.1110G>C
ENST00000648260.1:c.2242G>C	ENSP00000497957.1:p.Asp748His
ENST00000649406.1:c.3277G>C	ENSP00000497965.1:p.Asp1093His
ENST00000649781.1:c.3277G>C	ENSP00000497203.1:p.Asp1093His
ENST00000003084.10:c.3460G>C	ENSP00000003084.6:p.Asp1154His
ENST00000426809.5:c.3370G>C	ENSP00000389119.1:p.Asp1124His
ENST00000468795.1:c.285G>C
NM_000492.3:c.3460G>C , LRG_663t1:c.3460G>C	NP_000483.3:p.Asp1154His
XM_011515751.1:c.3550G>C	XP_011514053.1:p.Asp1184His
XM_011515752.1:c.3550G>C	XP_011514054.1:p.Asp1184His
XM_011515753.1:c.3217G>C	XP_011514055.1:p.Asp1073His
XM_011515754.1:c.3217G>C	XP_011514056.1:p.Asp1073His
NM_000492.4:c.3460G>C MANE Select	NP_000483.3:p.Asp1154His