Canonical Allele Identifier: CA368990615

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117250633G>C (hg19) ; chr7:g.117610579G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610579G>C , CM000669.2:g.117610579G>C	GRCh38
NC_000007.13:g.117250633G>C , CM000669.1:g.117250633G>C	GRCh37
NC_000007.12:g.117037869G>C	NCBI36
NG_016465.4:g.149796G>C , LRG_663:g.149796G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3049G>C	ENSP00000497673.2:p.Val1017Leu
ENST00000647978.2:c.*2763G>C	ENSP00000497658.1:n.*2763G>C
ENST00000649781.2:c.2866G>C	ENSP00000497203.1:p.Val956Leu
ENST00000685018.2:c.3049G>C	ENSP00000510194.2:p.Val1017Leu
ENST00000687278.2:c.3049G>C	ENSP00000509593.2:p.Val1017Leu
ENST00000699585.1:c.3049G>C	ENSP00000514456.1:p.Val1017Leu
ENST00000699598.1:c.3049G>C	ENSP00000514467.1:p.Val1017Leu
ENST00000699599.1:c.3049G>C	ENSP00000514468.1:p.Val1017Leu
ENST00000699600.1:c.3049G>C	ENSP00000514469.1:p.Val1017Leu
ENST00000699601.1:c.*1349G>C	ENSP00000514470.1:n.*1349G>C
ENST00000699602.1:c.3049G>C	ENSP00000514471.1:p.Val1017Leu
ENST00000699604.1:c.*2873G>C	ENSP00000514472.1:n.*2873G>C
ENST00000699605.1:c.2623G>C	ENSP00000514473.1:p.Val875Leu
ENST00000687278.1:c.640G>C	ENSP00000509593.1:p.Val214Leu
ENST00000003084.11:c.3049G>C MANE Select	ENSP00000003084.6:p.Val1017Leu
ENST00000647720.1:c.699G>C
ENST00000648260.1:c.1831G>C	ENSP00000497957.1:p.Val611Leu
ENST00000649406.1:c.2866G>C	ENSP00000497965.1:p.Val956Leu
ENST00000649781.1:c.2866G>C	ENSP00000497203.1:p.Val956Leu
ENST00000003084.10:c.3049G>C	ENSP00000003084.6:p.Val1017Leu
ENST00000426809.5:c.2959G>C	ENSP00000389119.1:p.Val987Leu
NM_000492.3:c.3049G>C , LRG_663t1:c.3049G>C	NP_000483.3:p.Val1017Leu
XM_011515751.1:c.3139G>C	XP_011514053.1:p.Val1047Leu
XM_011515752.1:c.3139G>C	XP_011514054.1:p.Val1047Leu
XM_011515753.1:c.2806G>C	XP_011514055.1:p.Val936Leu
XM_011515754.1:c.2806G>C	XP_011514056.1:p.Val936Leu
NM_000492.4:c.3049G>C MANE Select	NP_000483.3:p.Val1017Leu