Canonical Allele Identifier: CA368982195

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304790G>C (hg19) ; chr7:g.117664736G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664736G>C , CM000669.2:g.117664736G>C	GRCh38
NC_000007.13:g.117304790G>C , CM000669.1:g.117304790G>C	GRCh37
NC_000007.12:g.117092026G>C	NCBI36
NG_016465.4:g.203953G>C , LRG_663:g.203953G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*221G>C	ENSP00000497673.2:n.*221G>C
ENST00000647978.2:c.*3726G>C	ENSP00000497658.1:n.*3726G>C
ENST00000649781.2:c.3829G>C	ENSP00000497203.1:p.Val1277Leu
ENST00000685018.2:c.*225G>C	ENSP00000510194.2:n.*225G>C
ENST00000687278.2:c.*665G>C	ENSP00000509593.2:n.*665G>C
ENST00000699585.1:c.*221G>C	ENSP00000514456.1:n.*221G>C
ENST00000699598.1:c.4012G>C	ENSP00000514467.1:p.Val1338Leu
ENST00000699599.1:c.*225G>C	ENSP00000514468.1:n.*225G>C
ENST00000699600.1:c.*673G>C	ENSP00000514469.1:n.*673G>C
ENST00000699601.1:c.*2387G>C	ENSP00000514470.1:n.*2387G>C
ENST00000699602.1:c.4006G>C	ENSP00000514471.1:p.Val1336Leu
ENST00000699604.1:c.*3836G>C	ENSP00000514472.1:n.*3836G>C
ENST00000699605.1:c.3586G>C	ENSP00000514473.1:p.Val1196Leu
ENST00000699606.1:n.2180G>C
ENST00000685018.1:c.876G>C	ENSP00000510194.1:n.876G>C
ENST00000687278.1:c.1799G>C	ENSP00000509593.1:n.1799G>C
ENST00000689011.1:c.594G>C
ENST00000003084.11:c.4012G>C MANE Select	ENSP00000003084.6:p.Val1338Leu
ENST00000647720.1:c.1462G>C
ENST00000649781.1:c.3829G>C	ENSP00000497203.1:p.Val1277Leu
ENST00000003084.10:c.4012G>C	ENSP00000003084.6:p.Val1338Leu
ENST00000426809.5:c.3922G>C	ENSP00000389119.1:p.Val1308Leu
ENST00000600166.1:c.138G>C
NM_000492.3:c.4012G>C , LRG_663t1:c.4012G>C	NP_000483.3:p.Val1338Leu
XM_011515751.1:c.4102G>C	XP_011514053.1:p.Val1368Leu
XM_011515752.1:c.4102G>C	XP_011514054.1:p.Val1368Leu
XM_011515753.1:c.3769G>C	XP_011514055.1:p.Val1257Leu
XM_011515754.1:c.3769G>C	XP_011514056.1:p.Val1257Leu
NM_000492.4:c.4012G>C MANE Select	NP_000483.3:p.Val1338Leu