Canonical Allele Identifier: CA439275003
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2097059
ClinVar RCV Id: RCV003028368
gnomAD v4: 4-52038254-C-A
MyVariant Identifiers: chr4:g.52904420C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038254C>A , CM000666.2:g.52038254C>A GRCh38
NC_000004.11:g.52904420C>A , CM000666.1:g.52904420C>A GRCh37
NC_000004.10:g.52599177C>A NCBI36
NG_008891.1:g.5066G>T , LRG_204:g.5066G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.6G>T MANE Select ENSP00000370839.6:p.Ala2=
ENST00000381431.9:c.6G>T ENSP00000370839.5:p.Ala2=
NM_000232.4:c.6G>T , LRG_204t1:c.6G>T NP_000223.1:p.Ala2=
XM_011534403.1:c.6G>T XP_011532705.1:p.Ala2=
NM_000232.5:c.6G>T MANE Select NP_000223.1:p.Ala2=
Search 100 bp 5'
Search 100 bp 3'