Canonical Allele Identifier: CA164959919

Gene: CFTR

Linked Data

• dbSNP Id: rs944219282
• gnomAD v2: 7-117304688-A-G
• gnomAD v3: 7-117664634-A-G
• gnomAD v4: 7-117664634-A-G
• MyVariant Identifiers: chr7:g.117304688A>G (hg19) ; chr7:g.117664634A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664634A>G , CM000669.2:g.117664634A>G	GRCh38
NC_000007.13:g.117304688A>G , CM000669.1:g.117304688A>G	GRCh37
NC_000007.12:g.117091924A>G	NCBI36
NG_016465.4:g.203851A>G , LRG_663:g.203851A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*173-54A>G	ENSP00000497673.2:n.*173-54A>G
ENST00000647978.2:c.*3678-54A>G	ENSP00000497658.1:n.*3678-54A>G
ENST00000649781.2:c.3781-54A>G	ENSP00000497203.1:n.3781-54A>G
ENST00000685018.2:c.*177-54A>G	ENSP00000510194.2:n.*177-54A>G
ENST00000687278.2:c.*617-54A>G	ENSP00000509593.2:n.*617-54A>G
ENST00000699585.1:c.*173-54A>G	ENSP00000514456.1:n.*173-54A>G
ENST00000699598.1:c.3964-54A>G	ENSP00000514467.1:n.3964-54A>G
ENST00000699599.1:c.*177-54A>G	ENSP00000514468.1:n.*177-54A>G
ENST00000699600.1:c.*625-54A>G	ENSP00000514469.1:n.*625-54A>G
ENST00000699601.1:c.*2339-54A>G	ENSP00000514470.1:n.*2339-54A>G
ENST00000699602.1:c.3958-54A>G	ENSP00000514471.1:n.3958-54A>G
ENST00000699604.1:c.*3788-54A>G	ENSP00000514472.1:n.*3788-54A>G
ENST00000699605.1:c.3538-54A>G	ENSP00000514473.1:n.3538-54A>G
ENST00000699606.1:n.2132-54A>G
ENST00000685018.1:c.828-54A>G	ENSP00000510194.1:n.828-54A>G
ENST00000687278.1:c.1751-54A>G	ENSP00000509593.1:n.1751-54A>G
ENST00000689011.1:c.546-54A>G
ENST00000003084.11:c.3964-54A>G MANE Select	ENSP00000003084.6:n.3964-54A>G
ENST00000647720.1:c.1414-54A>G
ENST00000649781.1:c.3781-54A>G	ENSP00000497203.1:n.3781-54A>G
ENST00000003084.10:c.3964-54A>G	ENSP00000003084.6:n.3964-54A>G
ENST00000426809.5:c.3874-54A>G	ENSP00000389119.1:n.3874-54A>G
ENST00000600166.1:c.90-54A>G
NM_000492.3:c.3964-54A>G , LRG_663t1:c.3964-54A>G	NP_000483.3:n.3964-54A>G
XM_011515751.1:c.4054-54A>G	XP_011514053.1:n.4054-54A>G
XM_011515752.1:c.4054-54A>G	XP_011514054.1:n.4054-54A>G
XM_011515753.1:c.3721-54A>G	XP_011514055.1:n.3721-54A>G
XM_011515754.1:c.3721-54A>G	XP_011514056.1:n.3721-54A>G
NM_000492.4:c.3964-54A>G MANE Select	NP_000483.3:n.3964-54A>G