Canonical Allele Identifier: CA368993399

Gene: CFTR

Linked Data

• gnomAD v4: 7-117614643-T-C
• MyVariant Identifiers: chr7:g.117254697T>C (hg19) ; chr7:g.117614643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614643T>C , CM000669.2:g.117614643T>C	GRCh38
NC_000007.13:g.117254697T>C , CM000669.1:g.117254697T>C	GRCh37
NC_000007.12:g.117041933T>C	NCBI36
NG_016465.4:g.153860T>C , LRG_663:g.153860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3398T>C	ENSP00000497673.2:p.Leu1133Pro
ENST00000647978.2:c.*3112T>C	ENSP00000497658.1:n.*3112T>C
ENST00000649781.2:c.3215T>C	ENSP00000497203.1:p.Leu1072Pro
ENST00000685018.2:c.3398T>C	ENSP00000510194.2:p.Leu1133Pro
ENST00000687278.2:c.3398T>C	ENSP00000509593.2:p.Leu1133Pro
ENST00000699585.1:c.3398T>C	ENSP00000514456.1:p.Leu1133Pro
ENST00000699598.1:c.3398T>C	ENSP00000514467.1:p.Leu1133Pro
ENST00000699599.1:c.3398T>C	ENSP00000514468.1:p.Leu1133Pro
ENST00000699600.1:c.3398T>C	ENSP00000514469.1:p.Leu1133Pro
ENST00000699601.1:c.*1773T>C	ENSP00000514470.1:n.*1773T>C
ENST00000699602.1:c.3392T>C	ENSP00000514471.1:p.Leu1131Pro
ENST00000699604.1:c.*3222T>C	ENSP00000514472.1:n.*3222T>C
ENST00000699605.1:c.2972T>C	ENSP00000514473.1:p.Leu991Pro
ENST00000685018.1:c.146T>C	ENSP00000510194.1:p.Leu49Pro
ENST00000687278.1:c.989T>C	ENSP00000509593.1:p.Leu330Pro
ENST00000003084.11:c.3398T>C MANE Select	ENSP00000003084.6:p.Leu1133Pro
ENST00000647720.1:c.1048T>C
ENST00000648260.1:c.2180T>C	ENSP00000497957.1:p.Leu727Pro
ENST00000649406.1:c.3215T>C	ENSP00000497965.1:p.Leu1072Pro
ENST00000649781.1:c.3215T>C	ENSP00000497203.1:p.Leu1072Pro
ENST00000003084.10:c.3398T>C	ENSP00000003084.6:p.Leu1133Pro
ENST00000426809.5:c.3308T>C	ENSP00000389119.1:p.Leu1103Pro
ENST00000468795.1:c.223T>C
NM_000492.3:c.3398T>C , LRG_663t1:c.3398T>C	NP_000483.3:p.Leu1133Pro
XM_011515751.1:c.3488T>C	XP_011514053.1:p.Leu1163Pro
XM_011515752.1:c.3488T>C	XP_011514054.1:p.Leu1163Pro
XM_011515753.1:c.3155T>C	XP_011514055.1:p.Leu1052Pro
XM_011515754.1:c.3155T>C	XP_011514056.1:p.Leu1052Pro
NM_000492.4:c.3398T>C MANE Select	NP_000483.3:p.Leu1133Pro