Canonical Allele Identifier: CA368985206

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667048G>C , CM000669.2:g.117667048G>C	GRCh38
NC_000007.13:g.117307102G>C , CM000669.1:g.117307102G>C	GRCh37
NC_000007.12:g.117094338G>C	NCBI36
NG_016465.4:g.206265G>C , LRG_663:g.206265G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4383G>C MANE Select	NP_000483.3:p.Lys1461Asn
ENST00000003084.11:c.4383G>C MANE Select	ENSP00000003084.6:p.Lys1461Asn
NM_000492.3:c.4383G>C , LRG_663t1:c.4383G>C	NP_000483.3:p.Lys1461Asn
ENST00000003084.10:c.4383G>C	ENSP00000003084.6:p.Lys1461Asn
ENST00000426809.5:c.4293G>C	ENSP00000389119.1:p.Lys1431Asn
ENST00000600166.1:c.368+1484G>C
ENST00000647720.1:c.1833G>C
ENST00000647720.2:c.*592G>C	ENSP00000497673.2:n.*592G>C
ENST00000647978.2:c.*4097G>C	ENSP00000497658.1:n.*4097G>C
ENST00000649781.1:c.4200G>C	ENSP00000497203.1:p.Lys1400Asn
ENST00000649781.2:c.4200G>C	ENSP00000497203.1:p.Lys1400Asn
ENST00000685018.1:c.1247G>C	ENSP00000510194.1:n.1247G>C
ENST00000685018.2:c.*596G>C	ENSP00000510194.2:n.*596G>C
ENST00000687278.1:c.2030-554G>C	ENSP00000509593.1:n.2030-554G>C
ENST00000687278.2:c.*896-554G>C	ENSP00000509593.2:n.*896-554G>C
ENST00000689011.1:c.1225G>C
ENST00000699585.1:c.*852G>C	ENSP00000514456.1:n.*852G>C
ENST00000699598.1:c.*89G>C	ENSP00000514467.1:n.*89G>C
ENST00000699599.1:c.*596G>C	ENSP00000514468.1:n.*596G>C
ENST00000699600.1:c.*904-554G>C	ENSP00000514469.1:n.*904-554G>C
ENST00000699601.1:c.*2758G>C	ENSP00000514470.1:n.*2758G>C
ENST00000699602.1:c.4377G>C	ENSP00000514471.1:p.Lys1459Asn
ENST00000699604.1:c.*4207G>C	ENSP00000514472.1:n.*4207G>C
ENST00000699605.1:c.3957G>C	ENSP00000514473.1:p.Lys1319Asn
ENST00000699606.1:n.3894G>C
XM_011515751.1:c.4473G>C	XP_011514053.1:p.Lys1491Asn
XM_011515753.1:c.4140G>C	XP_011514055.1:p.Lys1380Asn
XM_011515754.1:c.4140G>C	XP_011514056.1:p.Lys1380Asn