Canonical Allele Identifier: CA368986819

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117243713A>C (hg19) ; chr7:g.117603659A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603659A>C , CM000669.2:g.117603659A>C	GRCh38
NC_000007.13:g.117243713A>C , CM000669.1:g.117243713A>C	GRCh37
NC_000007.12:g.117030949A>C	NCBI36
NG_016465.4:g.142876A>C , LRG_663:g.142876A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2785A>C	ENSP00000497673.2:p.Met929Leu
ENST00000647978.2:c.*2499A>C	ENSP00000497658.1:n.*2499A>C
ENST00000649781.2:c.2602A>C	ENSP00000497203.1:p.Met868Leu
ENST00000685018.2:c.2785A>C	ENSP00000510194.2:p.Met929Leu
ENST00000687278.2:c.2785A>C	ENSP00000509593.2:p.Met929Leu
ENST00000699585.1:c.2785A>C	ENSP00000514456.1:p.Met929Leu
ENST00000699598.1:c.2785A>C	ENSP00000514467.1:p.Met929Leu
ENST00000699599.1:c.2785A>C	ENSP00000514468.1:p.Met929Leu
ENST00000699600.1:c.2785A>C	ENSP00000514469.1:p.Met929Leu
ENST00000699601.1:c.*1085A>C	ENSP00000514470.1:n.*1085A>C
ENST00000699602.1:c.2785A>C	ENSP00000514471.1:p.Met929Leu
ENST00000699604.1:c.*2609A>C	ENSP00000514472.1:n.*2609A>C
ENST00000699605.1:c.2359A>C	ENSP00000514473.1:p.Met787Leu
ENST00000687278.1:c.376A>C	ENSP00000509593.1:p.Met126Leu
ENST00000003084.11:c.2785A>C MANE Select	ENSP00000003084.6:p.Met929Leu
ENST00000647720.1:c.435A>C
ENST00000648260.1:c.1567A>C	ENSP00000497957.1:p.Met523Leu
ENST00000649406.1:c.2602A>C	ENSP00000497965.1:p.Met868Leu
ENST00000649781.1:c.2602A>C	ENSP00000497203.1:p.Met868Leu
ENST00000003084.10:c.2785A>C	ENSP00000003084.6:p.Met929Leu
ENST00000426809.5:c.2695A>C	ENSP00000389119.1:p.Met899Leu
NM_000492.3:c.2785A>C , LRG_663t1:c.2785A>C	NP_000483.3:p.Met929Leu
XM_011515751.1:c.2875A>C	XP_011514053.1:p.Met959Leu
XM_011515752.1:c.2875A>C	XP_011514054.1:p.Met959Leu
XM_011515753.1:c.2542A>C	XP_011514055.1:p.Met848Leu
XM_011515754.1:c.2542A>C	XP_011514056.1:p.Met848Leu
NM_000492.4:c.2785A>C MANE Select	NP_000483.3:p.Met929Leu