Canonical Allele Identifier: CA4451251

Gene: CFTR

Linked Data

• ClinVar Variation Id: 455771
• ClinVar RCV Id: RCV000545926 ; RCV001194373 ; RCV001829533
• dbSNP Id: rs761531223
• ExAC: 7:117242889 T / G
• gnomAD v2: 7-117242889-T-G
• gnomAD v3: 7-117602835-T-G
• gnomAD v4: 7-117602835-T-G
• MyVariant Identifiers: chr7:g.117242889T>G (hg19) ; chr7:g.117602835T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117602835T>G , CM000669.2:g.117602835T>G	GRCh38
NC_000007.13:g.117242889T>G , CM000669.1:g.117242889T>G	GRCh37
NC_000007.12:g.117030125T>G	NCBI36
NG_016465.4:g.142052T>G , LRG_663:g.142052T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2629T>G	ENSP00000497673.2:p.Ser877Ala
ENST00000647978.2:c.*2343T>G	ENSP00000497658.1:n.*2343T>G
ENST00000649781.2:c.2446T>G	ENSP00000497203.1:p.Ser816Ala
ENST00000685018.2:c.2629T>G	ENSP00000510194.2:p.Ser877Ala
ENST00000687278.2:c.2629T>G	ENSP00000509593.2:p.Ser877Ala
ENST00000699585.1:c.2629T>G	ENSP00000514456.1:p.Ser877Ala
ENST00000699598.1:c.2629T>G	ENSP00000514467.1:p.Ser877Ala
ENST00000699599.1:c.2629T>G	ENSP00000514468.1:p.Ser877Ala
ENST00000699600.1:c.2629T>G	ENSP00000514469.1:p.Ser877Ala
ENST00000699601.1:c.*929T>G	ENSP00000514470.1:n.*929T>G
ENST00000699602.1:c.2629T>G	ENSP00000514471.1:p.Ser877Ala
ENST00000699604.1:c.*2453T>G	ENSP00000514472.1:n.*2453T>G
ENST00000699605.1:c.2203T>G	ENSP00000514473.1:p.Ser735Ala
ENST00000687278.1:c.220T>G	ENSP00000509593.1:p.Ser74Ala
ENST00000003084.11:c.2629T>G MANE Select	ENSP00000003084.6:p.Ser877Ala
ENST00000647720.1:c.279T>G
ENST00000648260.1:c.1411T>G	ENSP00000497957.1:p.Ser471Ala
ENST00000649406.1:c.2446T>G	ENSP00000497965.1:p.Ser816Ala
ENST00000649781.1:c.2446T>G	ENSP00000497203.1:p.Ser816Ala
ENST00000003084.10:c.2629T>G	ENSP00000003084.6:p.Ser877Ala
ENST00000426809.5:c.2539T>G	ENSP00000389119.1:p.Ser847Ala
NM_000492.3:c.2629T>G , LRG_663t1:c.2629T>G	NP_000483.3:p.Ser877Ala
XM_011515751.1:c.2719T>G	XP_011514053.1:p.Ser907Ala
XM_011515752.1:c.2719T>G	XP_011514054.1:p.Ser907Ala
XM_011515753.1:c.2386T>G	XP_011514055.1:p.Ser796Ala
XM_011515754.1:c.2386T>G	XP_011514056.1:p.Ser796Ala
NM_000492.4:c.2629T>G MANE Select	NP_000483.3:p.Ser877Ala