Canonical Allele Identifier: CA278847

Gene: MAF

Linked Data

• ClinVar Variation Id: 217344
• ClinVar RCV Id: RCV000203408
• dbSNP Id: rs864309695
• MyVariant Identifiers: chr16:g.79632920G>A (hg19) ; chr16:g.79599023G>A (hg38)
• PubMed: PMID:26694549 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.79599023G>A , CM000678.2:g.79599023G>A	GRCh38
NC_000016.9:g.79632920G>A , CM000678.1:g.79632920G>A	GRCh37
NC_000016.8:g.78190421G>A	NCBI36
NG_016440.1:g.6703C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326043.5:c.880C>T MANE Select	ENSP00000327048.4:p.Arg294Trp
ENST00000326043.4:c.880C>T	ENSP00000327048.4:p.Arg294Trp
ENST00000393350.1:c.880C>T	ENSP00000377019.1:p.Arg294Trp
ENST00000569649.1:c.880C>T	ENSP00000455097.1:p.Arg294Trp
NM_001031804.2:c.880C>T	NP_001026974.1:p.Arg294Trp
NM_005360.4:c.880C>T	NP_005351.2:p.Arg294Trp
XM_011523084.1:c.880C>T	XP_011521386.1:p.Arg294Trp
XM_017023233.2:c.880C>T	XP_016878722.1:p.Arg294Trp
XM_017023234.2:c.880C>T	XP_016878723.1:p.Arg294Trp
XM_017023235.2:c.880C>T	XP_016878724.1:p.Arg294Trp
XM_024450279.1:c.880C>T	XP_024306047.1:p.Arg294Trp
XR_001751902.2:n.2930C>T
XR_002957802.1:n.2930C>T
XR_002957803.1:n.2930C>T
XR_002957804.1:n.2930C>T
NM_005360.5:c.880C>T MANE Select	NP_005351.2:p.Arg294Trp
NM_001031804.3:c.880C>T	NP_001026974.1:p.Arg294Trp