Canonical Allele Identifier: CA368990770

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117250679A>C (hg19) ; chr7:g.117610625A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610625A>C , CM000669.2:g.117610625A>C	GRCh38
NC_000007.13:g.117250679A>C , CM000669.1:g.117250679A>C	GRCh37
NC_000007.12:g.117037915A>C	NCBI36
NG_016465.4:g.149842A>C , LRG_663:g.149842A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3095A>C	ENSP00000497673.2:p.Tyr1032Ser
ENST00000647978.2:c.*2809A>C	ENSP00000497658.1:n.*2809A>C
ENST00000649781.2:c.2912A>C	ENSP00000497203.1:p.Tyr971Ser
ENST00000685018.2:c.3095A>C	ENSP00000510194.2:p.Tyr1032Ser
ENST00000687278.2:c.3095A>C	ENSP00000509593.2:p.Tyr1032Ser
ENST00000699585.1:c.3095A>C	ENSP00000514456.1:p.Tyr1032Ser
ENST00000699598.1:c.3095A>C	ENSP00000514467.1:p.Tyr1032Ser
ENST00000699599.1:c.3095A>C	ENSP00000514468.1:p.Tyr1032Ser
ENST00000699600.1:c.3095A>C	ENSP00000514469.1:p.Tyr1032Ser
ENST00000699601.1:c.*1395A>C	ENSP00000514470.1:n.*1395A>C
ENST00000699602.1:c.3095A>C	ENSP00000514471.1:p.Tyr1032Ser
ENST00000699604.1:c.*2919A>C	ENSP00000514472.1:n.*2919A>C
ENST00000699605.1:c.2669A>C	ENSP00000514473.1:p.Tyr890Ser
ENST00000687278.1:c.686A>C	ENSP00000509593.1:p.Tyr229Ser
ENST00000003084.11:c.3095A>C MANE Select	ENSP00000003084.6:p.Tyr1032Ser
ENST00000647720.1:c.745A>C
ENST00000648260.1:c.1877A>C	ENSP00000497957.1:p.Tyr626Ser
ENST00000649406.1:c.2912A>C	ENSP00000497965.1:p.Tyr971Ser
ENST00000649781.1:c.2912A>C	ENSP00000497203.1:p.Tyr971Ser
ENST00000003084.10:c.3095A>C	ENSP00000003084.6:p.Tyr1032Ser
ENST00000426809.5:c.3005A>C	ENSP00000389119.1:p.Tyr1002Ser
NM_000492.3:c.3095A>C , LRG_663t1:c.3095A>C	NP_000483.3:p.Tyr1032Ser
XM_011515751.1:c.3185A>C	XP_011514053.1:p.Tyr1062Ser
XM_011515752.1:c.3185A>C	XP_011514054.1:p.Tyr1062Ser
XM_011515753.1:c.2852A>C	XP_011514055.1:p.Tyr951Ser
XM_011515754.1:c.2852A>C	XP_011514056.1:p.Tyr951Ser
NM_000492.4:c.3095A>C MANE Select	NP_000483.3:p.Tyr1032Ser