Canonical Allele Identifier: CA368979600

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117232302G>C (hg19) ; chr7:g.117592248G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592248G>C , CM000669.2:g.117592248G>C	GRCh38
NC_000007.13:g.117232302G>C , CM000669.1:g.117232302G>C	GRCh37
NC_000007.12:g.117019538G>C	NCBI36
NG_016465.4:g.131465G>C , LRG_663:g.131465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2081G>C	ENSP00000497673.2:p.Gly694Ala
ENST00000647978.2:c.*1795G>C	ENSP00000497658.1:n.*1795G>C
ENST00000649781.2:c.1898G>C	ENSP00000497203.1:p.Gly633Ala
ENST00000685018.2:c.2081G>C	ENSP00000510194.2:p.Gly694Ala
ENST00000687278.2:c.2081G>C	ENSP00000509593.2:p.Gly694Ala
ENST00000699585.1:c.2081G>C	ENSP00000514456.1:p.Gly694Ala
ENST00000699598.1:c.2081G>C	ENSP00000514467.1:p.Gly694Ala
ENST00000699599.1:c.2081G>C	ENSP00000514468.1:p.Gly694Ala
ENST00000699600.1:c.2081G>C	ENSP00000514469.1:p.Gly694Ala
ENST00000699601.1:c.*381G>C	ENSP00000514470.1:n.*381G>C
ENST00000699602.1:c.2081G>C	ENSP00000514471.1:p.Gly694Ala
ENST00000699604.1:c.*1905G>C	ENSP00000514472.1:n.*1905G>C
ENST00000699605.1:c.1655G>C	ENSP00000514473.1:p.Gly552Ala
ENST00000003084.11:c.2081G>C MANE Select	ENSP00000003084.6:p.Gly694Ala
ENST00000647978.1:c.*1795G>C	ENSP00000497658.1:n.*1795G>C
ENST00000648260.1:c.1402-10578G>C	ENSP00000497957.1:n.1402-10578G>C
ENST00000649406.1:c.1898G>C	ENSP00000497965.1:p.Gly633Ala
ENST00000649781.1:c.1898G>C	ENSP00000497203.1:p.Gly633Ala
ENST00000003084.10:c.2081G>C	ENSP00000003084.6:p.Gly694Ala
ENST00000426809.5:c.1991G>C	ENSP00000389119.1:p.Gly664Ala
NM_000492.3:c.2081G>C , LRG_663t1:c.2081G>C	NP_000483.3:p.Gly694Ala
XM_011515751.1:c.2171G>C	XP_011514053.1:p.Gly724Ala
XM_011515752.1:c.2171G>C	XP_011514054.1:p.Gly724Ala
XM_011515753.1:c.1838G>C	XP_011514055.1:p.Gly613Ala
XM_011515754.1:c.1838G>C	XP_011514056.1:p.Gly613Ala
NM_000492.4:c.2081G>C MANE Select	NP_000483.3:p.Gly694Ala