Canonical Allele Identifier: CA631657392

Gene: C3

Linked Data

• dbSNP Id: rs1157538301
• gnomAD v2: 19-6698002-TA-T
• gnomAD v3: 19-6697991-TA-T
• gnomAD v4: 19-6697991-TA-T
• MyVariant Identifiers: chr19:g.6698003del (hg19) ; chr19:g.6697992del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697992del , CM000681.2:g.6697992del	GRCh38
NC_000019.9:g.6698003del , CM000681.1:g.6698003del	GRCh37
NC_000019.8:g.6649003del	NCBI36
NG_009557.1:g.27660del , LRG_27:g.27660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.789-198del
ENST00000695652.1:c.2318-198del	ENSP00000512083.1:n.2318-198del
ENST00000695653.1:c.350-198del	ENSP00000512084.1:n.350-198del
ENST00000695654.1:c.1565-198del	ENSP00000512085.1:n.1565-198del
ENST00000695655.1:c.1382-198del	ENSP00000512086.1:n.1382-198del
ENST00000695692.1:n.1805-198del
ENST00000245907.11:c.2441-198del MANE Select	ENSP00000245907.4:n.2441-198del
ENST00000245907.10:c.2441-198del	ENSP00000245907.4:n.2441-198del
ENST00000602053.1:n.489-198del
NM_000064.3:c.2441-198del	NP_000055.2:n.2441-198del
NM_000064.4:c.2441-198del MANE Select	NP_000055.2:n.2441-198del