Canonical Allele Identifier: CA457448741

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1768764
• ClinVar RCV Id: RCV002382981
• COSMIC: COSM4515046
• MyVariant Identifiers: chr7:g.117180280C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540226C>T , CM000669.2:g.117540226C>T	GRCh38
NC_000007.13:g.117180280C>T , CM000669.1:g.117180280C>T	GRCh37
NC_000007.12:g.116967516C>T	NCBI36
NG_016465.4:g.79443C>T , LRG_663:g.79443C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.996C>T	ENSP00000497673.2:p.Ile332=
ENST00000647978.2:c.*893C>T	ENSP00000497658.1:n.*893C>T
ENST00000649781.2:c.996C>T	ENSP00000497203.1:p.Ile332=
ENST00000685018.2:c.996C>T	ENSP00000510194.2:p.Ile332=
ENST00000687278.2:c.996C>T	ENSP00000509593.2:p.Ile332=
ENST00000699585.1:c.996C>T	ENSP00000514456.1:p.Ile332=
ENST00000699596.1:c.996C>T	ENSP00000514465.1:p.Ile332=
ENST00000699597.1:c.996C>T	ENSP00000514466.1:p.Ile332=
ENST00000699598.1:c.996C>T	ENSP00000514467.1:p.Ile332=
ENST00000699599.1:c.996C>T	ENSP00000514468.1:p.Ile332=
ENST00000699600.1:c.996C>T	ENSP00000514469.1:p.Ile332=
ENST00000699601.1:c.996C>T	ENSP00000514470.1:p.Ile332=
ENST00000699602.1:c.996C>T	ENSP00000514471.1:p.Ile332=
ENST00000699604.1:c.*820C>T	ENSP00000514472.1:n.*820C>T
ENST00000699605.1:c.753C>T	ENSP00000514473.1:p.Ile251=
ENST00000003084.11:c.996C>T MANE Select	ENSP00000003084.6:p.Ile332=
ENST00000647978.1:c.*893C>T	ENSP00000497658.1:n.*893C>T
ENST00000648260.1:c.996C>T	ENSP00000497957.1:p.Ile332=
ENST00000649406.1:c.996C>T	ENSP00000497965.1:p.Ile332=
ENST00000649781.1:c.996C>T	ENSP00000497203.1:p.Ile332=
ENST00000673785.1:c.753C>T	ENSP00000501235.1:p.Ile251=
ENST00000003084.10:c.996C>T	ENSP00000003084.6:p.Ile332=
ENST00000426809.5:c.906C>T	ENSP00000389119.1:p.Ile302=
NM_000492.3:c.996C>T , LRG_663t1:c.996C>T	NP_000483.3:p.Ile332=
XM_011515751.1:c.1086C>T	XP_011514053.1:p.Ile362=
XM_011515752.1:c.1086C>T	XP_011514054.1:p.Ile362=
XM_011515753.1:c.753C>T	XP_011514055.1:p.Ile251=
XM_011515754.1:c.753C>T	XP_011514056.1:p.Ile251=
NM_000492.4:c.996C>T MANE Select	NP_000483.3:p.Ile332=