Canonical Allele Identifier: CA260211
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 35817
ClinVar RCV Id: RCV000029470
dbSNP Id: rs193922498
MyVariant Identifiers: chr7:g.117144367C>G (hg19) chr7:g.117504313C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117504313C>G , CM000669.2:g.117504313C>G GRCh38
NC_000007.13:g.117144367C>G , CM000669.1:g.117144367C>G GRCh37
NC_000007.12:g.116931603C>G NCBI36
NG_016465.4:g.43530C>G , LRG_663:g.43530C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.114C>G ENSP00000497673.2:p.Tyr38Ter
ENST00000647978.2:c.114C>G ENSP00000497658.1:p.Tyr38Ter
ENST00000649781.2:c.114C>G ENSP00000497203.1:p.Tyr38Ter
ENST00000649850.2:c.114C>G ENSP00000514457.1:p.Tyr38Ter
ENST00000685018.2:c.114C>G ENSP00000510194.2:p.Tyr38Ter
ENST00000687278.2:c.114C>G ENSP00000509593.2:p.Tyr38Ter
ENST00000693465.2:n.199C>G
ENST00000699585.1:c.114C>G ENSP00000514456.1:p.Tyr38Ter
ENST00000699596.1:c.114C>G ENSP00000514465.1:p.Tyr38Ter
ENST00000699597.1:c.114C>G ENSP00000514466.1:p.Tyr38Ter
ENST00000699598.1:c.114C>G ENSP00000514467.1:p.Tyr38Ter
ENST00000699599.1:c.114C>G ENSP00000514468.1:p.Tyr38Ter
ENST00000699600.1:c.114C>G ENSP00000514469.1:p.Tyr38Ter
ENST00000699601.1:c.114C>G ENSP00000514470.1:p.Tyr38Ter
ENST00000699602.1:c.114C>G ENSP00000514471.1:p.Tyr38Ter
ENST00000699604.1:c.114C>G ENSP00000514472.1:p.Tyr38Ter
ENST00000699605.1:c.-130C>G ENSP00000514473.1:n.-130C>G
ENST00000446805.2:c.-130C>G ENSP00000417012.1:n.-130C>G
ENST00000693465.1:n.184C>G
ENST00000003084.11:c.114C>G MANE Select ENSP00000003084.6:p.Tyr38Ter
ENST00000647639.1:n.198C>G
ENST00000647978.1:c.114C>G ENSP00000497658.1:p.Tyr38Ter
ENST00000648260.1:c.114C>G ENSP00000497957.1:p.Tyr38Ter
ENST00000649406.1:c.114C>G ENSP00000497965.1:p.Tyr38Ter
ENST00000649781.1:c.114C>G ENSP00000497203.1:p.Tyr38Ter
ENST00000649850.1:n.197C>G
ENST00000673785.1:c.-130C>G ENSP00000501235.1:n.-130C>G
ENST00000003084.10:c.114C>G ENSP00000003084.6:p.Tyr38Ter
ENST00000426809.5:c.114C>G ENSP00000389119.1:p.Tyr38Ter
ENST00000446805.1:c.-130C>G ENSP00000417012.1:n.-130C>G
NM_000492.3:c.114C>G , LRG_663t1:c.114C>G NP_000483.3:p.Tyr38Ter
XM_011515751.1:c.204C>G XP_011514053.1:p.Tyr68Ter
XM_011515752.1:c.204C>G XP_011514054.1:p.Tyr68Ter
XM_011515753.1:c.-130C>G XP_011514055.1:n.-130C>G
XM_011515754.1:c.-204C>G XP_011514056.1:n.-204C>G
NM_000492.4:c.114C>G MANE Select NP_000483.3:p.Tyr38Ter
Search 100 bp 5'
Search 100 bp 3'