Canonical Allele Identifier: CA368974843

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282558A>C (hg19) ; chr7:g.117642504A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642504A>C , CM000669.2:g.117642504A>C	GRCh38
NC_000007.13:g.117282558A>C , CM000669.1:g.117282558A>C	GRCh37
NC_000007.12:g.117069794A>C	NCBI36
NG_016465.4:g.181721A>C , LRG_663:g.181721A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3584A>C	ENSP00000497673.2:p.Glu1195Ala
ENST00000647978.2:c.*3498A>C	ENSP00000497658.1:n.*3498A>C
ENST00000649781.2:c.3601A>C	ENSP00000497203.1:p.Asn1201His
ENST00000685018.2:c.3784A>C	ENSP00000510194.2:p.Asn1262His
ENST00000687278.2:c.*437A>C	ENSP00000509593.2:n.*437A>C
ENST00000699585.1:c.3584A>C	ENSP00000514456.1:p.Glu1195Ala
ENST00000699598.1:c.3784A>C	ENSP00000514467.1:p.Asn1262His
ENST00000699599.1:c.3784A>C	ENSP00000514468.1:p.Asn1262His
ENST00000699600.1:c.*445A>C	ENSP00000514469.1:n.*445A>C
ENST00000699601.1:c.*2159A>C	ENSP00000514470.1:n.*2159A>C
ENST00000699602.1:c.3778A>C	ENSP00000514471.1:p.Asn1260His
ENST00000699604.1:c.*3608A>C	ENSP00000514472.1:n.*3608A>C
ENST00000699605.1:c.3358A>C	ENSP00000514473.1:p.Asn1120His
ENST00000685018.1:c.532A>C	ENSP00000510194.1:p.Asn178His
ENST00000687278.1:c.1571A>C	ENSP00000509593.1:n.1571A>C
ENST00000689011.1:c.366A>C
ENST00000003084.11:c.3784A>C MANE Select	ENSP00000003084.6:p.Asn1262His
ENST00000647720.1:c.1234A>C
ENST00000649781.1:c.3601A>C	ENSP00000497203.1:p.Asn1201His
ENST00000003084.10:c.3784A>C	ENSP00000003084.6:p.Asn1262His
ENST00000426809.5:c.3694A>C	ENSP00000389119.1:p.Asn1232His
NM_000492.3:c.3784A>C , LRG_663t1:c.3784A>C	NP_000483.3:p.Asn1262His
XM_011515751.1:c.3874A>C	XP_011514053.1:p.Asn1292His
XM_011515752.1:c.3874A>C	XP_011514054.1:p.Asn1292His
XM_011515753.1:c.3541A>C	XP_011514055.1:p.Asn1181His
XM_011515754.1:c.3541A>C	XP_011514056.1:p.Asn1181His
NM_000492.4:c.3784A>C MANE Select	NP_000483.3:p.Asn1262His