Canonical Allele Identifier: CA4450596

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2447414
• ClinVar RCV Id: RCV003165236
• dbSNP Id: rs397508173
• ExAC: 7:117120159 C / T
• gnomAD v2: 7-117120159-C-T
• gnomAD v3: 7-117480105-C-T
• gnomAD v4: 7-117480105-C-T
• COSMIC: COSM3257215
• MyVariant Identifiers: chr7:g.117120159C>T (hg19) ; chr7:g.117480105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480105C>T , CM000669.2:g.117480105C>T	GRCh38
NC_000007.13:g.117120159C>T , CM000669.1:g.117120159C>T	GRCh37
NC_000007.12:g.116907395C>T	NCBI36
NG_016465.4:g.19322C>T , LRG_663:g.19322C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.11C>T	ENSP00000497673.2:p.Ser4Leu
ENST00000647978.2:c.11C>T	ENSP00000497658.1:p.Ser4Leu
ENST00000649781.2:c.11C>T	ENSP00000497203.1:p.Ser4Leu
ENST00000649850.2:c.11C>T	ENSP00000514457.1:p.Ser4Leu
ENST00000685018.2:c.11C>T	ENSP00000510194.2:p.Ser4Leu
ENST00000687278.2:c.11C>T	ENSP00000509593.2:p.Ser4Leu
ENST00000692802.2:n.95C>T
ENST00000693465.2:n.96C>T
ENST00000693480.2:n.95C>T
ENST00000699585.1:c.11C>T	ENSP00000514456.1:p.Ser4Leu
ENST00000699596.1:c.11C>T	ENSP00000514465.1:p.Ser4Leu
ENST00000699597.1:c.11C>T	ENSP00000514466.1:p.Ser4Leu
ENST00000699598.1:c.11C>T	ENSP00000514467.1:p.Ser4Leu
ENST00000699599.1:c.11C>T	ENSP00000514468.1:p.Ser4Leu
ENST00000699600.1:c.11C>T	ENSP00000514469.1:p.Ser4Leu
ENST00000699601.1:c.11C>T	ENSP00000514470.1:p.Ser4Leu
ENST00000699602.1:c.11C>T	ENSP00000514471.1:p.Ser4Leu
ENST00000699603.1:n.95C>T
ENST00000699604.1:c.11C>T	ENSP00000514472.1:p.Ser4Leu
ENST00000699605.1:c.-342C>T	ENSP00000514473.1:n.-342C>T
ENST00000446805.2:c.-191+411C>T	ENSP00000417012.1:n.-191+411C>T
ENST00000692802.1:n.81C>T
ENST00000693465.1:n.81C>T
ENST00000693480.1:n.81C>T
ENST00000003084.11:c.11C>T MANE Select	ENSP00000003084.6:p.Ser4Leu
ENST00000647639.1:n.95C>T
ENST00000647978.1:c.11C>T	ENSP00000497658.1:p.Ser4Leu
ENST00000648260.1:c.11C>T	ENSP00000497957.1:p.Ser4Leu
ENST00000649406.1:c.11C>T	ENSP00000497965.1:p.Ser4Leu
ENST00000649781.1:c.11C>T	ENSP00000497203.1:p.Ser4Leu
ENST00000649850.1:n.94C>T
ENST00000673785.1:c.-406+14274C>T	ENSP00000501235.1:n.-406+14274C>T
ENST00000003084.10:c.11C>T	ENSP00000003084.6:p.Ser4Leu
ENST00000426809.5:c.11C>T	ENSP00000389119.1:p.Ser4Leu
ENST00000446805.1:c.-191+411C>T	ENSP00000417012.1:n.-191+411C>T
ENST00000546407.1:n.166+4297C>T
NM_000492.3:c.11C>T , LRG_663t1:c.11C>T	NP_000483.3:p.Ser4Leu
XM_011515751.1:c.143+760C>T	XP_011514053.1:n.143+760C>T
XM_011515752.1:c.143+760C>T	XP_011514054.1:n.143+760C>T
XM_011515753.1:c.-191+411C>T	XP_011514055.1:n.-191+411C>T
XM_011515754.1:c.-518-43C>T	XP_011514056.1:n.-518-43C>T
NM_000492.4:c.11C>T MANE Select	NP_000483.3:p.Ser4Leu