Canonical Allele Identifier: CA10617784
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 348855
ClinVar RCV Id: RCV000310293 RCV000338963
dbSNP Id: rs886059427
gnomAD v2: 4-52887543-G-A
gnomAD v3: 4-52021377-G-A
gnomAD v4: 4-52021377-G-A
MyVariant Identifiers: chr4:g.52887543G>A (hg19) chr4:g.52021377G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52021377G>A , CM000666.2:g.52021377G>A GRCh38
NC_000004.11:g.52887543G>A , CM000666.1:g.52887543G>A GRCh37
NC_000004.10:g.52582300G>A NCBI36
NG_008891.1:g.21943C>T , LRG_204:g.21943C>T
NG_053164.1:g.3935C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.*2580C>T MANE Select ENSP00000370839.6:n.*2580C>T
ENST00000381431.9:c.*2580C>T ENSP00000370839.5:n.*2580C>T
NM_000232.4:c.*2580C>T , LRG_204t1:c.*2580C>T NP_000223.1:n.*2580C>T
XM_006714049.2:c.*2580C>T XP_006714112.1:n.*2580C>T
XM_011534403.1:c.*2580C>T XP_011532705.1:n.*2580C>T
XM_011534404.1:c.*2580C>T XP_011532706.1:n.*2580C>T
NM_000232.5:c.*2580C>T MANE Select NP_000223.1:n.*2580C>T
Search 100 bp 5'
Search 100 bp 3'