Canonical Allele Identifier: CA368989123

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117246774C>G (hg19) ; chr7:g.117606720C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606720C>G , CM000669.2:g.117606720C>G	GRCh38
NC_000007.13:g.117246774C>G , CM000669.1:g.117246774C>G	GRCh37
NC_000007.12:g.117034010C>G	NCBI36
NG_016465.4:g.145937C>G , LRG_663:g.145937C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2955C>G	ENSP00000497673.2:p.Asp985Glu
ENST00000647978.2:c.*2669C>G	ENSP00000497658.1:n.*2669C>G
ENST00000649781.2:c.2772C>G	ENSP00000497203.1:p.Asp924Glu
ENST00000685018.2:c.2955C>G	ENSP00000510194.2:p.Asp985Glu
ENST00000687278.2:c.2955C>G	ENSP00000509593.2:p.Asp985Glu
ENST00000699585.1:c.2955C>G	ENSP00000514456.1:p.Asp985Glu
ENST00000699598.1:c.2955C>G	ENSP00000514467.1:p.Asp985Glu
ENST00000699599.1:c.2955C>G	ENSP00000514468.1:p.Asp985Glu
ENST00000699600.1:c.2955C>G	ENSP00000514469.1:p.Asp985Glu
ENST00000699601.1:c.*1255C>G	ENSP00000514470.1:n.*1255C>G
ENST00000699602.1:c.2955C>G	ENSP00000514471.1:p.Asp985Glu
ENST00000699604.1:c.*2779C>G	ENSP00000514472.1:n.*2779C>G
ENST00000699605.1:c.2529C>G	ENSP00000514473.1:p.Asp843Glu
ENST00000687278.1:c.546C>G	ENSP00000509593.1:p.Asp182Glu
ENST00000003084.11:c.2955C>G MANE Select	ENSP00000003084.6:p.Asp985Glu
ENST00000647720.1:c.605C>G
ENST00000648260.1:c.1737C>G	ENSP00000497957.1:p.Asp579Glu
ENST00000649406.1:c.2772C>G	ENSP00000497965.1:p.Asp924Glu
ENST00000649781.1:c.2772C>G	ENSP00000497203.1:p.Asp924Glu
ENST00000003084.10:c.2955C>G	ENSP00000003084.6:p.Asp985Glu
ENST00000426809.5:c.2865C>G	ENSP00000389119.1:p.Asp955Glu
NM_000492.3:c.2955C>G , LRG_663t1:c.2955C>G	NP_000483.3:p.Asp985Glu
XM_011515751.1:c.3045C>G	XP_011514053.1:p.Asp1015Glu
XM_011515752.1:c.3045C>G	XP_011514054.1:p.Asp1015Glu
XM_011515753.1:c.2712C>G	XP_011514055.1:p.Asp904Glu
XM_011515754.1:c.2712C>G	XP_011514056.1:p.Asp904Glu
NM_000492.4:c.2955C>G MANE Select	NP_000483.3:p.Asp985Glu