Canonical Allele Identifier: CA368982263

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304799G>C (hg19) ; chr7:g.117664745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664745G>C , CM000669.2:g.117664745G>C	GRCh38
NC_000007.13:g.117304799G>C , CM000669.1:g.117304799G>C	GRCh37
NC_000007.12:g.117092035G>C	NCBI36
NG_016465.4:g.203962G>C , LRG_663:g.203962G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*230G>C	ENSP00000497673.2:n.*230G>C
ENST00000647978.2:c.*3735G>C	ENSP00000497658.1:n.*3735G>C
ENST00000649781.2:c.3838G>C	ENSP00000497203.1:p.Asp1280His
ENST00000685018.2:c.*234G>C	ENSP00000510194.2:n.*234G>C
ENST00000687278.2:c.*674G>C	ENSP00000509593.2:n.*674G>C
ENST00000699585.1:c.*230G>C	ENSP00000514456.1:n.*230G>C
ENST00000699598.1:c.4021G>C	ENSP00000514467.1:p.Asp1341His
ENST00000699599.1:c.*234G>C	ENSP00000514468.1:n.*234G>C
ENST00000699600.1:c.*682G>C	ENSP00000514469.1:n.*682G>C
ENST00000699601.1:c.*2396G>C	ENSP00000514470.1:n.*2396G>C
ENST00000699602.1:c.4015G>C	ENSP00000514471.1:p.Asp1339His
ENST00000699604.1:c.*3845G>C	ENSP00000514472.1:n.*3845G>C
ENST00000699605.1:c.3595G>C	ENSP00000514473.1:p.Asp1199His
ENST00000699606.1:n.2189G>C
ENST00000685018.1:c.885G>C	ENSP00000510194.1:n.885G>C
ENST00000687278.1:c.1808G>C	ENSP00000509593.1:n.1808G>C
ENST00000689011.1:c.603G>C
ENST00000003084.11:c.4021G>C MANE Select	ENSP00000003084.6:p.Asp1341His
ENST00000647720.1:c.1471G>C
ENST00000649781.1:c.3838G>C	ENSP00000497203.1:p.Asp1280His
ENST00000003084.10:c.4021G>C	ENSP00000003084.6:p.Asp1341His
ENST00000426809.5:c.3931G>C	ENSP00000389119.1:p.Asp1311His
ENST00000600166.1:c.147G>C
NM_000492.3:c.4021G>C , LRG_663t1:c.4021G>C	NP_000483.3:p.Asp1341His
XM_011515751.1:c.4111G>C	XP_011514053.1:p.Asp1371His
XM_011515752.1:c.4111G>C	XP_011514054.1:p.Asp1371His
XM_011515753.1:c.3778G>C	XP_011514055.1:p.Asp1260His
XM_011515754.1:c.3778G>C	XP_011514056.1:p.Asp1260His
NM_000492.4:c.4021G>C MANE Select	NP_000483.3:p.Asp1341His