Canonical Allele Identifier: CA368982158

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304786C>G (hg19) ; chr7:g.117664732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664732C>G , CM000669.2:g.117664732C>G	GRCh38
NC_000007.13:g.117304786C>G , CM000669.1:g.117304786C>G	GRCh37
NC_000007.12:g.117092022C>G	NCBI36
NG_016465.4:g.203949C>G , LRG_663:g.203949C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*217C>G	ENSP00000497673.2:n.*217C>G
ENST00000647978.2:c.*3722C>G	ENSP00000497658.1:n.*3722C>G
ENST00000649781.2:c.3825C>G	ENSP00000497203.1:p.Asp1275Glu
ENST00000685018.2:c.*221C>G	ENSP00000510194.2:n.*221C>G
ENST00000687278.2:c.*661C>G	ENSP00000509593.2:n.*661C>G
ENST00000699585.1:c.*217C>G	ENSP00000514456.1:n.*217C>G
ENST00000699598.1:c.4008C>G	ENSP00000514467.1:p.Asp1336Glu
ENST00000699599.1:c.*221C>G	ENSP00000514468.1:n.*221C>G
ENST00000699600.1:c.*669C>G	ENSP00000514469.1:n.*669C>G
ENST00000699601.1:c.*2383C>G	ENSP00000514470.1:n.*2383C>G
ENST00000699602.1:c.4002C>G	ENSP00000514471.1:p.Asp1334Glu
ENST00000699604.1:c.*3832C>G	ENSP00000514472.1:n.*3832C>G
ENST00000699605.1:c.3582C>G	ENSP00000514473.1:p.Asp1194Glu
ENST00000699606.1:n.2176C>G
ENST00000685018.1:c.872C>G	ENSP00000510194.1:n.872C>G
ENST00000687278.1:c.1795C>G	ENSP00000509593.1:n.1795C>G
ENST00000689011.1:c.590C>G
ENST00000003084.11:c.4008C>G MANE Select	ENSP00000003084.6:p.Asp1336Glu
ENST00000647720.1:c.1458C>G
ENST00000649781.1:c.3825C>G	ENSP00000497203.1:p.Asp1275Glu
ENST00000003084.10:c.4008C>G	ENSP00000003084.6:p.Asp1336Glu
ENST00000426809.5:c.3918C>G	ENSP00000389119.1:p.Asp1306Glu
ENST00000600166.1:c.134C>G
NM_000492.3:c.4008C>G , LRG_663t1:c.4008C>G	NP_000483.3:p.Asp1336Glu
XM_011515751.1:c.4098C>G	XP_011514053.1:p.Asp1366Glu
XM_011515752.1:c.4098C>G	XP_011514054.1:p.Asp1366Glu
XM_011515753.1:c.3765C>G	XP_011514055.1:p.Asp1255Glu
XM_011515754.1:c.3765C>G	XP_011514056.1:p.Asp1255Glu
NM_000492.4:c.4008C>G MANE Select	NP_000483.3:p.Asp1336Glu