Canonical Allele Identifier: CA368981807

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117232711G>T (hg19) ; chr7:g.117592657G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592657G>T , CM000669.2:g.117592657G>T	GRCh38
NC_000007.13:g.117232711G>T , CM000669.1:g.117232711G>T	GRCh37
NC_000007.12:g.117019947G>T	NCBI36
NG_016465.4:g.131874G>T , LRG_663:g.131874G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2490G>T	ENSP00000497673.2:p.Lys830Asn
ENST00000647978.2:c.*2204G>T	ENSP00000497658.1:n.*2204G>T
ENST00000649781.2:c.2307G>T	ENSP00000497203.1:p.Lys769Asn
ENST00000685018.2:c.2490G>T	ENSP00000510194.2:p.Lys830Asn
ENST00000687278.2:c.2490G>T	ENSP00000509593.2:p.Lys830Asn
ENST00000699585.1:c.2490G>T	ENSP00000514456.1:p.Lys830Asn
ENST00000699598.1:c.2490G>T	ENSP00000514467.1:p.Lys830Asn
ENST00000699599.1:c.2490G>T	ENSP00000514468.1:p.Lys830Asn
ENST00000699600.1:c.2490G>T	ENSP00000514469.1:p.Lys830Asn
ENST00000699601.1:c.*790G>T	ENSP00000514470.1:n.*790G>T
ENST00000699602.1:c.2490G>T	ENSP00000514471.1:p.Lys830Asn
ENST00000699604.1:c.*2314G>T	ENSP00000514472.1:n.*2314G>T
ENST00000699605.1:c.2064G>T	ENSP00000514473.1:p.Lys688Asn
ENST00000687278.1:c.81G>T	ENSP00000509593.1:p.Lys27Asn
ENST00000003084.11:c.2490G>T MANE Select	ENSP00000003084.6:p.Lys830Asn
ENST00000647720.1:c.140G>T
ENST00000647978.1:c.*2204G>T	ENSP00000497658.1:n.*2204G>T
ENST00000648260.1:c.1402-10169G>T	ENSP00000497957.1:n.1402-10169G>T
ENST00000649406.1:c.2307G>T	ENSP00000497965.1:p.Lys769Asn
ENST00000649781.1:c.2307G>T	ENSP00000497203.1:p.Lys769Asn
ENST00000003084.10:c.2490G>T	ENSP00000003084.6:p.Lys830Asn
ENST00000426809.5:c.2400G>T	ENSP00000389119.1:p.Lys800Asn
NM_000492.3:c.2490G>T , LRG_663t1:c.2490G>T	NP_000483.3:p.Lys830Asn
XM_011515751.1:c.2580G>T	XP_011514053.1:p.Lys860Asn
XM_011515752.1:c.2580G>T	XP_011514054.1:p.Lys860Asn
XM_011515753.1:c.2247G>T	XP_011514055.1:p.Lys749Asn
XM_011515754.1:c.2247G>T	XP_011514056.1:p.Lys749Asn
NM_000492.4:c.2490G>T MANE Select	NP_000483.3:p.Lys830Asn