Canonical Allele Identifier: CA164965144

Gene: CFTR

Linked Data

• ClinVar Variation Id: 929222
• ClinVar RCV Id: RCV001194368 ; RCV001828605 ; RCV002436767
• dbSNP Id: rs978796108
• gnomAD v4: 7-117610567-C-T
• MyVariant Identifiers: chr7:g.117250621C>T (hg19) ; chr7:g.117610567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610567C>T , CM000669.2:g.117610567C>T	GRCh38
NC_000007.13:g.117250621C>T , CM000669.1:g.117250621C>T	GRCh37
NC_000007.12:g.117037857C>T	NCBI36
NG_016465.4:g.149784C>T , LRG_663:g.149784C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3037C>T	ENSP00000497673.2:p.Pro1013Ser
ENST00000647978.2:c.*2751C>T	ENSP00000497658.1:n.*2751C>T
ENST00000649781.2:c.2854C>T	ENSP00000497203.1:p.Pro952Ser
ENST00000685018.2:c.3037C>T	ENSP00000510194.2:p.Pro1013Ser
ENST00000687278.2:c.3037C>T	ENSP00000509593.2:p.Pro1013Ser
ENST00000699585.1:c.3037C>T	ENSP00000514456.1:p.Pro1013Ser
ENST00000699598.1:c.3037C>T	ENSP00000514467.1:p.Pro1013Ser
ENST00000699599.1:c.3037C>T	ENSP00000514468.1:p.Pro1013Ser
ENST00000699600.1:c.3037C>T	ENSP00000514469.1:p.Pro1013Ser
ENST00000699601.1:c.*1337C>T	ENSP00000514470.1:n.*1337C>T
ENST00000699602.1:c.3037C>T	ENSP00000514471.1:p.Pro1013Ser
ENST00000699604.1:c.*2861C>T	ENSP00000514472.1:n.*2861C>T
ENST00000699605.1:c.2611C>T	ENSP00000514473.1:p.Pro871Ser
ENST00000687278.1:c.628C>T	ENSP00000509593.1:p.Pro210Ser
ENST00000003084.11:c.3037C>T MANE Select	ENSP00000003084.6:p.Pro1013Ser
ENST00000647720.1:c.687C>T
ENST00000648260.1:c.1819C>T	ENSP00000497957.1:p.Pro607Ser
ENST00000649406.1:c.2854C>T	ENSP00000497965.1:p.Pro952Ser
ENST00000649781.1:c.2854C>T	ENSP00000497203.1:p.Pro952Ser
ENST00000003084.10:c.3037C>T	ENSP00000003084.6:p.Pro1013Ser
ENST00000426809.5:c.2947C>T	ENSP00000389119.1:p.Pro983Ser
NM_000492.3:c.3037C>T , LRG_663t1:c.3037C>T	NP_000483.3:p.Pro1013Ser
XM_011515751.1:c.3127C>T	XP_011514053.1:p.Pro1043Ser
XM_011515752.1:c.3127C>T	XP_011514054.1:p.Pro1043Ser
XM_011515753.1:c.2794C>T	XP_011514055.1:p.Pro932Ser
XM_011515754.1:c.2794C>T	XP_011514056.1:p.Pro932Ser
NM_000492.4:c.3037C>T MANE Select	NP_000483.3:p.Pro1013Ser