Canonical Allele Identifier: CA368975238

Gene: CFTR

Linked Data

• COSMIC: COSM3632325
• MyVariant Identifiers: chr7:g.117282597G>A (hg19) ; chr7:g.117642543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642543G>A , CM000669.2:g.117642543G>A	GRCh38
NC_000007.13:g.117282597G>A , CM000669.1:g.117282597G>A	GRCh37
NC_000007.12:g.117069833G>A	NCBI36
NG_016465.4:g.181760G>A , LRG_663:g.181760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*32G>A	ENSP00000497673.2:n.*32G>A
ENST00000647978.2:c.*3537G>A	ENSP00000497658.1:n.*3537G>A
ENST00000649781.2:c.3640G>A	ENSP00000497203.1:p.Asp1214Asn
ENST00000685018.2:c.3823G>A	ENSP00000510194.2:p.Asp1275Asn
ENST00000687278.2:c.*476G>A	ENSP00000509593.2:n.*476G>A
ENST00000699585.1:c.*32G>A	ENSP00000514456.1:n.*32G>A
ENST00000699598.1:c.3823G>A	ENSP00000514467.1:p.Asp1275Asn
ENST00000699599.1:c.3823G>A	ENSP00000514468.1:p.Asp1275Asn
ENST00000699600.1:c.*484G>A	ENSP00000514469.1:n.*484G>A
ENST00000699601.1:c.*2198G>A	ENSP00000514470.1:n.*2198G>A
ENST00000699602.1:c.3817G>A	ENSP00000514471.1:p.Asp1273Asn
ENST00000699604.1:c.*3647G>A	ENSP00000514472.1:n.*3647G>A
ENST00000699605.1:c.3397G>A	ENSP00000514473.1:p.Asp1133Asn
ENST00000685018.1:c.571G>A	ENSP00000510194.1:p.Asp191Asn
ENST00000687278.1:c.1610G>A	ENSP00000509593.1:n.1610G>A
ENST00000689011.1:c.405G>A
ENST00000003084.11:c.3823G>A MANE Select	ENSP00000003084.6:p.Asp1275Asn
ENST00000647720.1:c.1273G>A
ENST00000649781.1:c.3640G>A	ENSP00000497203.1:p.Asp1214Asn
ENST00000003084.10:c.3823G>A	ENSP00000003084.6:p.Asp1275Asn
ENST00000426809.5:c.3733G>A	ENSP00000389119.1:p.Asp1245Asn
NM_000492.3:c.3823G>A , LRG_663t1:c.3823G>A	NP_000483.3:p.Asp1275Asn
XM_011515751.1:c.3913G>A	XP_011514053.1:p.Asp1305Asn
XM_011515752.1:c.3913G>A	XP_011514054.1:p.Asp1305Asn
XM_011515753.1:c.3580G>A	XP_011514055.1:p.Asp1194Asn
XM_011515754.1:c.3580G>A	XP_011514056.1:p.Asp1194Asn
NM_000492.4:c.3823G>A MANE Select	NP_000483.3:p.Asp1275Asn