Canonical Allele Identifier: CA394458828

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294553G>C (hg19) ; chr16:g.3244553G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244553G>C , CM000678.2:g.3244553G>C	GRCh38
NC_000016.9:g.3294553G>C , CM000678.1:g.3294553G>C	GRCh37
NC_000016.8:g.3234554G>C	NCBI36
NG_007871.1:g.17075C>G , LRG_190:g.17075C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.767C>G
ENST00000219596.6:c.1646C>G MANE Select	ENSP00000219596.1:p.Thr549Ser
ENST00000219596.5:c.1646C>G	ENSP00000219596.1:p.Thr549Ser
ENST00000339854.8:c.1106C>G	ENSP00000339639.4:p.Thr369Ser
ENST00000536379.5:c.1013C>G	ENSP00000445079.1:p.Thr338Ser
ENST00000536980.5:c.1013C>G	ENSP00000444178.1:p.Thr338Ser
ENST00000537682.5:c.1646C>G	ENSP00000438611.1:p.Thr549Ser
ENST00000538326.5:c.*271C>G	ENSP00000437486.1:n.*271C>G
ENST00000539145.5:c.567C>G	ENSP00000444471.1:n.567C>G
ENST00000541159.5:c.1013C>G	ENSP00000438711.1:p.Thr338Ser
ENST00000542898.5:c.1739C>G	ENSP00000444615.1:p.Thr580Ser
ENST00000570511.5:c.1165-661C>G	ENSP00000458312.1:n.1165-661C>G
ENST00000572244.5:c.336C>G	ENSP00000461186.1:n.336C>G
ENST00000574583.5:c.532-661C>G	ENSP00000460269.1:n.532-661C>G
ENST00000576315.5:c.532-267C>G	ENSP00000460551.1:n.532-267C>G
ENST00000621655.1:c.1013C>G	ENSP00000481436.1:p.Thr338Ser
NM_000243.2:c.1646C>G , LRG_190t1:c.1646C>G	NP_000234.1:p.Thr549Ser
NM_001198536.1:c.1013C>G	NP_001185465.1:p.Thr338Ser
XM_017023236.2:c.1643C>G	XP_016878725.1:p.Thr548Ser
XR_001751903.1:n.1835C>G
NM_000243.3:c.1646C>G MANE Select	NP_000234.1:p.Thr549Ser
NM_001198536.2:c.1013C>G	NP_001185465.2:p.Thr338Ser