Canonical Allele Identifier: CA350158

Gene: CFTR

Linked Data

• ClinVar Variation Id: 219537
• ClinVar RCV Id: RCV000587447 ; RCV001160121 ; RCV001327945 ; RCV001762431 ; RCV000206091 ; RCV000664323 ; RCV003468932
• dbSNP Id: rs1800110
• ExAC: 7:117243828 T / C
• gnomAD v2: 7-117243828-T-C
• gnomAD v3: 7-117603774-T-C
• gnomAD v4: 7-117603774-T-C
• MyVariant Identifiers: chr7:g.117243828T>C (hg19) ; chr7:g.117603774T>C (hg38)
• PubMed: PMID:7691344 ; PMID:11025834 ; PMID:11938439 ; PMID:12167682 ; PMID:15858154 ; PMID:16134171 ; PMID:16193325 ; PMID:18195584 ; PMID:21184098 ; PMID:21499205 ; PMID:21520337 ; PMID:23951356 ; PMID:24451227 ; PMID:24586523 ; PMID:25033378 ; PMID:25824995 ; PMID:25963003

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603774T>C , CM000669.2:g.117603774T>C	GRCh38
NC_000007.13:g.117243828T>C , CM000669.1:g.117243828T>C	GRCh37
NC_000007.12:g.117031064T>C	NCBI36
NG_016465.4:g.142991T>C , LRG_663:g.142991T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2900T>C	ENSP00000497673.2:p.Leu967Ser
ENST00000647978.2:c.*2614T>C	ENSP00000497658.1:n.*2614T>C
ENST00000649781.2:c.2717T>C	ENSP00000497203.1:p.Leu906Ser
ENST00000685018.2:c.2900T>C	ENSP00000510194.2:p.Leu967Ser
ENST00000687278.2:c.2900T>C	ENSP00000509593.2:p.Leu967Ser
ENST00000699585.1:c.2900T>C	ENSP00000514456.1:p.Leu967Ser
ENST00000699598.1:c.2900T>C	ENSP00000514467.1:p.Leu967Ser
ENST00000699599.1:c.2900T>C	ENSP00000514468.1:p.Leu967Ser
ENST00000699600.1:c.2900T>C	ENSP00000514469.1:p.Leu967Ser
ENST00000699601.1:c.*1200T>C	ENSP00000514470.1:n.*1200T>C
ENST00000699602.1:c.2900T>C	ENSP00000514471.1:p.Leu967Ser
ENST00000699604.1:c.*2724T>C	ENSP00000514472.1:n.*2724T>C
ENST00000699605.1:c.2474T>C	ENSP00000514473.1:p.Leu825Ser
ENST00000687278.1:c.491T>C	ENSP00000509593.1:p.Leu164Ser
ENST00000003084.11:c.2900T>C MANE Select	ENSP00000003084.6:p.Leu967Ser
ENST00000647720.1:c.550T>C
ENST00000648260.1:c.1682T>C	ENSP00000497957.1:p.Leu561Ser
ENST00000649406.1:c.2717T>C	ENSP00000497965.1:p.Leu906Ser
ENST00000649781.1:c.2717T>C	ENSP00000497203.1:p.Leu906Ser
ENST00000003084.10:c.2900T>C	ENSP00000003084.6:p.Leu967Ser
ENST00000426809.5:c.2810T>C	ENSP00000389119.1:p.Leu937Ser
NM_000492.3:c.2900T>C , LRG_663t1:c.2900T>C	NP_000483.3:p.Leu967Ser
XM_011515751.1:c.2990T>C	XP_011514053.1:p.Leu997Ser
XM_011515752.1:c.2990T>C	XP_011514054.1:p.Leu997Ser
XM_011515753.1:c.2657T>C	XP_011514055.1:p.Leu886Ser
XM_011515754.1:c.2657T>C	XP_011514056.1:p.Leu886Ser
NM_000492.4:c.2900T>C MANE Select	NP_000483.3:p.Leu967Ser