Canonical Allele Identifier: CA368990820

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117250702C>G (hg19) ; chr7:g.117610648C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610648C>G , CM000669.2:g.117610648C>G	GRCh38
NC_000007.13:g.117250702C>G , CM000669.1:g.117250702C>G	GRCh37
NC_000007.12:g.117037938C>G	NCBI36
NG_016465.4:g.149865C>G , LRG_663:g.149865C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3118C>G	ENSP00000497673.2:p.Leu1040Val
ENST00000647978.2:c.*2832C>G	ENSP00000497658.1:n.*2832C>G
ENST00000649781.2:c.2935C>G	ENSP00000497203.1:p.Leu979Val
ENST00000685018.2:c.3118C>G	ENSP00000510194.2:p.Leu1040Val
ENST00000687278.2:c.3118C>G	ENSP00000509593.2:p.Leu1040Val
ENST00000699585.1:c.3118C>G	ENSP00000514456.1:p.Leu1040Val
ENST00000699598.1:c.3118C>G	ENSP00000514467.1:p.Leu1040Val
ENST00000699599.1:c.3118C>G	ENSP00000514468.1:p.Leu1040Val
ENST00000699600.1:c.3118C>G	ENSP00000514469.1:p.Leu1040Val
ENST00000699601.1:c.*1418C>G	ENSP00000514470.1:n.*1418C>G
ENST00000699602.1:c.3118C>G	ENSP00000514471.1:p.Leu1040Val
ENST00000699604.1:c.*2942C>G	ENSP00000514472.1:n.*2942C>G
ENST00000699605.1:c.2692C>G	ENSP00000514473.1:p.Leu898Val
ENST00000687278.1:c.709C>G	ENSP00000509593.1:p.Leu237Val
ENST00000003084.11:c.3118C>G MANE Select	ENSP00000003084.6:p.Leu1040Val
ENST00000647720.1:c.768C>G
ENST00000648260.1:c.1900C>G	ENSP00000497957.1:p.Leu634Val
ENST00000649406.1:c.2935C>G	ENSP00000497965.1:p.Leu979Val
ENST00000649781.1:c.2935C>G	ENSP00000497203.1:p.Leu979Val
ENST00000003084.10:c.3118C>G	ENSP00000003084.6:p.Leu1040Val
ENST00000426809.5:c.3028C>G	ENSP00000389119.1:p.Leu1010Val
NM_000492.3:c.3118C>G , LRG_663t1:c.3118C>G	NP_000483.3:p.Leu1040Val
XM_011515751.1:c.3208C>G	XP_011514053.1:p.Leu1070Val
XM_011515752.1:c.3208C>G	XP_011514054.1:p.Leu1070Val
XM_011515753.1:c.2875C>G	XP_011514055.1:p.Leu959Val
XM_011515754.1:c.2875C>G	XP_011514056.1:p.Leu959Val
NM_000492.4:c.3118C>G MANE Select	NP_000483.3:p.Leu1040Val