Canonical Allele Identifier: CA457231441

Gene: CFTR

Linked Data

• gnomAD v4: 7-117627692-A-G
• MyVariant Identifiers: chr7:g.117267746A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627692A>G , CM000669.2:g.117627692A>G	GRCh38
NC_000007.13:g.117267746A>G , CM000669.1:g.117267746A>G	GRCh37
NC_000007.12:g.117054982A>G	NCBI36
NG_016465.4:g.166909A>G , LRG_663:g.166909A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+122A>G	ENSP00000497673.2:n.3517+122A>G
ENST00000647978.2:c.*3353A>G	ENSP00000497658.1:n.*3353A>G
ENST00000649781.2:c.3456A>G	ENSP00000497203.1:p.Lys1152=
ENST00000685018.2:c.3639A>G	ENSP00000510194.2:p.Lys1213=
ENST00000687278.2:c.*292A>G	ENSP00000509593.2:n.*292A>G
ENST00000699585.1:c.3517+122A>G	ENSP00000514456.1:n.3517+122A>G
ENST00000699598.1:c.3639A>G	ENSP00000514467.1:p.Lys1213=
ENST00000699599.1:c.3639A>G	ENSP00000514468.1:p.Lys1213=
ENST00000699600.1:c.*300A>G	ENSP00000514469.1:n.*300A>G
ENST00000699601.1:c.*2014A>G	ENSP00000514470.1:n.*2014A>G
ENST00000699602.1:c.3633A>G	ENSP00000514471.1:p.Lys1211=
ENST00000699604.1:c.*3463A>G	ENSP00000514472.1:n.*3463A>G
ENST00000699605.1:c.3213A>G	ENSP00000514473.1:p.Lys1071=
ENST00000685018.1:c.387A>G	ENSP00000510194.1:p.Lys129=
ENST00000687278.1:c.1426A>G	ENSP00000509593.1:n.1426A>G
ENST00000689011.1:c.221A>G
ENST00000003084.11:c.3639A>G MANE Select	ENSP00000003084.6:p.Lys1213=
ENST00000647720.1:c.1167+122A>G
ENST00000648260.1:c.2421A>G	ENSP00000497957.1:p.Lys807=
ENST00000649406.1:c.3456A>G	ENSP00000497965.1:p.Lys1152=
ENST00000649781.1:c.3456A>G	ENSP00000497203.1:p.Lys1152=
ENST00000003084.10:c.3639A>G	ENSP00000003084.6:p.Lys1213=
ENST00000426809.5:c.3549A>G	ENSP00000389119.1:p.Lys1183=
ENST00000468795.1:c.464A>G
NM_000492.3:c.3639A>G , LRG_663t1:c.3639A>G	NP_000483.3:p.Lys1213=
XM_011515751.1:c.3729A>G	XP_011514053.1:p.Lys1243=
XM_011515752.1:c.3729A>G	XP_011514054.1:p.Lys1243=
XM_011515753.1:c.3396A>G	XP_011514055.1:p.Lys1132=
XM_011515754.1:c.3396A>G	XP_011514056.1:p.Lys1132=
NM_000492.4:c.3639A>G MANE Select	NP_000483.3:p.Lys1213=