Canonical Allele Identifier: CA2918311
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs770407259
ExAC: 4:52894161 G / A
gnomAD v2: 4-52894161-G-A
gnomAD v4: 4-52027995-G-A
MyVariant Identifiers: chr4:g.52894161G>A (hg19) chr4:g.52027995G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027995G>A , CM000666.2:g.52027995G>A GRCh38
NC_000004.11:g.52894161G>A , CM000666.1:g.52894161G>A GRCh37
NC_000004.10:g.52588918G>A NCBI36
NG_008891.1:g.15325C>T , LRG_204:g.15325C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.726C>T MANE Select ENSP00000370839.6:p.His242=
ENST00000381431.9:c.726C>T ENSP00000370839.5:p.His242=
NM_000232.4:c.726C>T , LRG_204t1:c.726C>T NP_000223.1:p.His242=
XM_006714049.2:c.429C>T XP_006714112.1:p.His143=
XM_011534403.1:c.516C>T XP_011532705.1:p.His172=
XM_011534404.1:c.429C>T XP_011532706.1:p.His143=
NM_000232.5:c.726C>T MANE Select NP_000223.1:p.His242=
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