Canonical Allele Identifier: CA368992544

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117251820A>C (hg19) ; chr7:g.117611766A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611766A>C , CM000669.2:g.117611766A>C	GRCh38
NC_000007.13:g.117251820A>C , CM000669.1:g.117251820A>C	GRCh37
NC_000007.12:g.117039056A>C	NCBI36
NG_016465.4:g.150983A>C , LRG_663:g.150983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3325A>C	ENSP00000497673.2:p.Ile1109Leu
ENST00000647978.2:c.*3039A>C	ENSP00000497658.1:n.*3039A>C
ENST00000649781.2:c.3142A>C	ENSP00000497203.1:p.Ile1048Leu
ENST00000685018.2:c.3325A>C	ENSP00000510194.2:p.Ile1109Leu
ENST00000687278.2:c.3325A>C	ENSP00000509593.2:p.Ile1109Leu
ENST00000699585.1:c.3325A>C	ENSP00000514456.1:p.Ile1109Leu
ENST00000699598.1:c.3325A>C	ENSP00000514467.1:p.Ile1109Leu
ENST00000699599.1:c.3325A>C	ENSP00000514468.1:p.Ile1109Leu
ENST00000699600.1:c.3325A>C	ENSP00000514469.1:p.Ile1109Leu
ENST00000699601.1:c.*1625A>C	ENSP00000514470.1:n.*1625A>C
ENST00000699602.1:c.3325A>C	ENSP00000514471.1:p.Ile1109Leu
ENST00000699604.1:c.*3149A>C	ENSP00000514472.1:n.*3149A>C
ENST00000699605.1:c.2899A>C	ENSP00000514473.1:p.Ile967Leu
ENST00000685018.1:c.73A>C	ENSP00000510194.1:p.Ile25Leu
ENST00000687278.1:c.916A>C	ENSP00000509593.1:p.Ile306Leu
ENST00000003084.11:c.3325A>C MANE Select	ENSP00000003084.6:p.Ile1109Leu
ENST00000647720.1:c.975A>C
ENST00000648260.1:c.2107A>C	ENSP00000497957.1:p.Ile703Leu
ENST00000649406.1:c.3142A>C	ENSP00000497965.1:p.Ile1048Leu
ENST00000649781.1:c.3142A>C	ENSP00000497203.1:p.Ile1048Leu
ENST00000003084.10:c.3325A>C	ENSP00000003084.6:p.Ile1109Leu
ENST00000426809.5:c.3235A>C	ENSP00000389119.1:p.Ile1079Leu
ENST00000468795.1:c.150A>C
NM_000492.3:c.3325A>C , LRG_663t1:c.3325A>C	NP_000483.3:p.Ile1109Leu
XM_011515751.1:c.3415A>C	XP_011514053.1:p.Ile1139Leu
XM_011515752.1:c.3415A>C	XP_011514054.1:p.Ile1139Leu
XM_011515753.1:c.3082A>C	XP_011514055.1:p.Ile1028Leu
XM_011515754.1:c.3082A>C	XP_011514056.1:p.Ile1028Leu
NM_000492.4:c.3325A>C MANE Select	NP_000483.3:p.Ile1109Leu