Canonical Allele Identifier: CA326377

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53174
• ClinVar RCV Id: RCV000046212 ; RCV001158654 ; RCV000588868 ; RCV002265581 ; RCV001000006
• dbSNP Id: rs1800086
• ExAC: 7:117180336 C / G
• gnomAD v2: 7-117180336-C-G
• gnomAD v3: 7-117540282-C-G
• gnomAD v4: 7-117540282-C-G
• MyVariant Identifiers: chr7:g.117180336C>G (hg19) ; chr7:g.117540282C>G (hg38)
• PubMed: PMID:8477260 ; PMID:9272157 ; PMID:15858154 ; PMID:16128988 ; PMID:18716917 ; PMID:19812525 ; PMID:20059485 ; PMID:20167849 ; PMID:23670503 ; PMID:23687349 ; PMID:23891399 ; PMID:23951356 ; PMID:25735457

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540282C>G , CM000669.2:g.117540282C>G	GRCh38
NC_000007.13:g.117180336C>G , CM000669.1:g.117180336C>G	GRCh37
NC_000007.12:g.116967572C>G	NCBI36
NG_016465.4:g.79499C>G , LRG_663:g.79499C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1052C>G	ENSP00000497673.2:p.Thr351Ser
ENST00000647978.2:c.*949C>G	ENSP00000497658.1:n.*949C>G
ENST00000649781.2:c.1052C>G	ENSP00000497203.1:p.Thr351Ser
ENST00000685018.2:c.1052C>G	ENSP00000510194.2:p.Thr351Ser
ENST00000687278.2:c.1052C>G	ENSP00000509593.2:p.Thr351Ser
ENST00000699585.1:c.1052C>G	ENSP00000514456.1:p.Thr351Ser
ENST00000699596.1:c.1052C>G	ENSP00000514465.1:p.Thr351Ser
ENST00000699597.1:c.1052C>G	ENSP00000514466.1:p.Thr351Ser
ENST00000699598.1:c.1052C>G	ENSP00000514467.1:p.Thr351Ser
ENST00000699599.1:c.1052C>G	ENSP00000514468.1:p.Thr351Ser
ENST00000699600.1:c.1052C>G	ENSP00000514469.1:p.Thr351Ser
ENST00000699601.1:c.1052C>G	ENSP00000514470.1:p.Thr351Ser
ENST00000699602.1:c.1052C>G	ENSP00000514471.1:p.Thr351Ser
ENST00000699604.1:c.*876C>G	ENSP00000514472.1:n.*876C>G
ENST00000699605.1:c.809C>G	ENSP00000514473.1:p.Thr270Ser
ENST00000003084.11:c.1052C>G MANE Select	ENSP00000003084.6:p.Thr351Ser
ENST00000647978.1:c.*949C>G	ENSP00000497658.1:n.*949C>G
ENST00000648260.1:c.1052C>G	ENSP00000497957.1:p.Thr351Ser
ENST00000649406.1:c.1052C>G	ENSP00000497965.1:p.Thr351Ser
ENST00000649781.1:c.1052C>G	ENSP00000497203.1:p.Thr351Ser
ENST00000673785.1:c.809C>G	ENSP00000501235.1:p.Thr270Ser
ENST00000003084.10:c.1052C>G	ENSP00000003084.6:p.Thr351Ser
ENST00000426809.5:c.962C>G	ENSP00000389119.1:p.Thr321Ser
NM_000492.3:c.1052C>G , LRG_663t1:c.1052C>G	NP_000483.3:p.Thr351Ser
XM_011515751.1:c.1142C>G	XP_011514053.1:p.Thr381Ser
XM_011515752.1:c.1142C>G	XP_011514054.1:p.Thr381Ser
XM_011515753.1:c.809C>G	XP_011514055.1:p.Thr270Ser
XM_011515754.1:c.809C>G	XP_011514056.1:p.Thr270Ser
NM_000492.4:c.1052C>G MANE Select	NP_000483.3:p.Thr351Ser