Canonical Allele Identifier: CA349010630
Community Standard Title: NM_022168.4(IFIH1):c.601G>A (p.Asp201Asn)
Gene: IFIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162310786C>T , CM000664.2:g.162310786C>T GRCh38
NC_000002.11:g.163167296C>T , CM000664.1:g.163167296C>T GRCh37
NC_000002.10:g.162875542C>T NCBI36
NG_011495.1:g.12744G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022168.4:c.601G>A MANE Select NP_071451.2:p.Asp201Asn
ENST00000649979.2:c.601G>A MANE Select ENSP00000497271.1:p.Asp201Asn
NM_022168.3:c.601G>A NP_071451.2:p.Asp201Asn
ENST00000263642.2:c.601G>A ENSP00000263642.2:p.Asp201Asn
ENST00000421365.2:c.601G>A ENSP00000408450.2:p.Asp201Asn
ENST00000648433.1:c.601G>A ENSP00000496816.1:p.Asp201Asn
ENST00000649554.1:n.211G>A
ENST00000679938.1:c.436G>A ENSP00000505518.1:p.Asp146Asn
ENST00000697291.1:c.*198G>A ENSP00000513228.1:n.*198G>A
XM_011511629.1:c.601G>A XP_011509931.1:p.Asp201Asn