Canonical Allele Identifier: CA96776143

Gene: SGCB

Linked Data

• dbSNP Id: rs560020839
• gnomAD v2: 4-52893937-T-C
• gnomAD v3: 4-52027771-T-C
• gnomAD v4: 4-52027771-T-C
• MyVariant Identifiers: chr4:g.52893937T>C (hg19) ; chr4:g.52027771T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52027771T>C , CM000666.2:g.52027771T>C	GRCh38
NC_000004.11:g.52893937T>C , CM000666.1:g.52893937T>C	GRCh37
NC_000004.10:g.52588694T>C	NCBI36
NG_008891.1:g.15549A>G , LRG_204:g.15549A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.753+197A>G MANE Select	ENSP00000370839.6:n.753+197A>G
ENST00000381431.9:c.753+197A>G	ENSP00000370839.5:n.753+197A>G
NM_000232.4:c.753+197A>G , LRG_204t1:c.753+197A>G	NP_000223.1:n.753+197A>G
XM_006714049.2:c.456+197A>G	XP_006714112.1:n.456+197A>G
XM_011534403.1:c.543+197A>G	XP_011532705.1:n.543+197A>G
XM_011534404.1:c.456+197A>G	XP_011532706.1:n.456+197A>G
NM_000232.5:c.753+197A>G MANE Select	NP_000223.1:n.753+197A>G