Canonical Allele Identifier: CA368996150

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267613T>C (hg19) ; chr7:g.117627559T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627559T>C , CM000669.2:g.117627559T>C	GRCh38
NC_000007.13:g.117267613T>C , CM000669.1:g.117267613T>C	GRCh37
NC_000007.12:g.117054849T>C	NCBI36
NG_016465.4:g.166776T>C , LRG_663:g.166776T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3506T>C	ENSP00000497673.2:p.Met1169Thr
ENST00000647978.2:c.*3220T>C	ENSP00000497658.1:n.*3220T>C
ENST00000649781.2:c.3323T>C	ENSP00000497203.1:p.Met1108Thr
ENST00000685018.2:c.3506T>C	ENSP00000510194.2:p.Met1169Thr
ENST00000687278.2:c.*159T>C	ENSP00000509593.2:n.*159T>C
ENST00000699585.1:c.3506T>C	ENSP00000514456.1:p.Met1169Thr
ENST00000699598.1:c.3506T>C	ENSP00000514467.1:p.Met1169Thr
ENST00000699599.1:c.3506T>C	ENSP00000514468.1:p.Met1169Thr
ENST00000699600.1:c.*167T>C	ENSP00000514469.1:n.*167T>C
ENST00000699601.1:c.*1881T>C	ENSP00000514470.1:n.*1881T>C
ENST00000699602.1:c.3500T>C	ENSP00000514471.1:p.Met1167Thr
ENST00000699604.1:c.*3330T>C	ENSP00000514472.1:n.*3330T>C
ENST00000699605.1:c.3080T>C	ENSP00000514473.1:p.Met1027Thr
ENST00000685018.1:c.254T>C	ENSP00000510194.1:p.Met85Thr
ENST00000687278.1:c.1293T>C	ENSP00000509593.1:n.1293T>C
ENST00000689011.1:c.88T>C
ENST00000003084.11:c.3506T>C MANE Select	ENSP00000003084.6:p.Met1169Thr
ENST00000647720.1:c.1156T>C
ENST00000648260.1:c.2288T>C	ENSP00000497957.1:p.Met763Thr
ENST00000649406.1:c.3323T>C	ENSP00000497965.1:p.Met1108Thr
ENST00000649781.1:c.3323T>C	ENSP00000497203.1:p.Met1108Thr
ENST00000003084.10:c.3506T>C	ENSP00000003084.6:p.Met1169Thr
ENST00000426809.5:c.3416T>C	ENSP00000389119.1:p.Met1139Thr
ENST00000468795.1:c.331T>C
NM_000492.3:c.3506T>C , LRG_663t1:c.3506T>C	NP_000483.3:p.Met1169Thr
XM_011515751.1:c.3596T>C	XP_011514053.1:p.Met1199Thr
XM_011515752.1:c.3596T>C	XP_011514054.1:p.Met1199Thr
XM_011515753.1:c.3263T>C	XP_011514055.1:p.Met1088Thr
XM_011515754.1:c.3263T>C	XP_011514056.1:p.Met1088Thr
NM_000492.4:c.3506T>C MANE Select	NP_000483.3:p.Met1169Thr