Canonical Allele Identifier: CA368997259

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267737G>C (hg19) ; chr7:g.117627683G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627683G>C , CM000669.2:g.117627683G>C	GRCh38
NC_000007.13:g.117267737G>C , CM000669.1:g.117267737G>C	GRCh37
NC_000007.12:g.117054973G>C	NCBI36
NG_016465.4:g.166900G>C , LRG_663:g.166900G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+113G>C	ENSP00000497673.2:n.3517+113G>C
ENST00000647978.2:c.*3344G>C	ENSP00000497658.1:n.*3344G>C
ENST00000649781.2:c.3447G>C	ENSP00000497203.1:p.Met1149Ile
ENST00000685018.2:c.3630G>C	ENSP00000510194.2:p.Met1210Ile
ENST00000687278.2:c.*283G>C	ENSP00000509593.2:n.*283G>C
ENST00000699585.1:c.3517+113G>C	ENSP00000514456.1:n.3517+113G>C
ENST00000699598.1:c.3630G>C	ENSP00000514467.1:p.Met1210Ile
ENST00000699599.1:c.3630G>C	ENSP00000514468.1:p.Met1210Ile
ENST00000699600.1:c.*291G>C	ENSP00000514469.1:n.*291G>C
ENST00000699601.1:c.*2005G>C	ENSP00000514470.1:n.*2005G>C
ENST00000699602.1:c.3624G>C	ENSP00000514471.1:p.Met1208Ile
ENST00000699604.1:c.*3454G>C	ENSP00000514472.1:n.*3454G>C
ENST00000699605.1:c.3204G>C	ENSP00000514473.1:p.Met1068Ile
ENST00000685018.1:c.378G>C	ENSP00000510194.1:p.Met126Ile
ENST00000687278.1:c.1417G>C	ENSP00000509593.1:n.1417G>C
ENST00000689011.1:c.212G>C
ENST00000003084.11:c.3630G>C MANE Select	ENSP00000003084.6:p.Met1210Ile
ENST00000647720.1:c.1167+113G>C
ENST00000648260.1:c.2412G>C	ENSP00000497957.1:p.Met804Ile
ENST00000649406.1:c.3447G>C	ENSP00000497965.1:p.Met1149Ile
ENST00000649781.1:c.3447G>C	ENSP00000497203.1:p.Met1149Ile
ENST00000003084.10:c.3630G>C	ENSP00000003084.6:p.Met1210Ile
ENST00000426809.5:c.3540G>C	ENSP00000389119.1:p.Met1180Ile
ENST00000468795.1:c.455G>C
NM_000492.3:c.3630G>C , LRG_663t1:c.3630G>C	NP_000483.3:p.Met1210Ile
XM_011515751.1:c.3720G>C	XP_011514053.1:p.Met1240Ile
XM_011515752.1:c.3720G>C	XP_011514054.1:p.Met1240Ile
XM_011515753.1:c.3387G>C	XP_011514055.1:p.Met1129Ile
XM_011515754.1:c.3387G>C	XP_011514056.1:p.Met1129Ile
NM_000492.4:c.3630G>C MANE Select	NP_000483.3:p.Met1210Ile