Canonical Allele Identifier: CA2918439

Gene: SGCB

Linked Data

• dbSNP Id: rs749524513
• ExAC: 4:52895966 G / C
• gnomAD v2: 4-52895966-G-C
• gnomAD v4: 4-52029800-G-C
• MyVariant Identifiers: chr4:g.52895966G>C (hg19) ; chr4:g.52029800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029800G>C , CM000666.2:g.52029800G>C	GRCh38
NC_000004.11:g.52895966G>C , CM000666.1:g.52895966G>C	GRCh37
NC_000004.10:g.52590723G>C	NCBI36
NG_008891.1:g.13520C>G , LRG_204:g.13520C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.307C>G MANE Select	ENSP00000370839.6:p.His103Asp
ENST00000381431.9:c.307C>G	ENSP00000370839.5:p.His103Asp
ENST00000506357.5:c.390C>G
ENST00000514133.1:c.384C>G	ENSP00000425818.1:n.384C>G
NM_000232.4:c.307C>G , LRG_204t1:c.307C>G	NP_000223.1:p.His103Asp
XM_006714049.2:c.10C>G	XP_006714112.1:p.His4Asp
XM_011534403.1:c.97C>G	XP_011532705.1:p.His33Asp
XM_011534404.1:c.10C>G	XP_011532706.1:p.His4Asp
NM_000232.5:c.307C>G MANE Select	NP_000223.1:p.His103Asp