Canonical Allele Identifier: CA1251338

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 1606352
• ClinVar RCV Id: RCV002137701
• dbSNP Id: rs145418597
• ExAC: 1:173879096 A / G
• gnomAD v2: 1-173879096-A-G
• gnomAD v3: 1-173909958-A-G
• gnomAD v4: 1-173909958-A-G
• MyVariant Identifiers: chr1:g.173879096A>G (hg19) ; chr1:g.173909958A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909958A>G , CM000663.2:g.173909958A>G	GRCh38
NC_000001.10:g.173879096A>G , CM000663.1:g.173879096A>G	GRCh37
NC_000001.9:g.172145719A>G	NCBI36
NG_012462.1:g.12421T>C , LRG_577:g.12421T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.763-16T>C MANE Select	ENSP00000356671.3:n.763-16T>C
ENST00000367698.3:c.763-16T>C	ENSP00000356671.3:n.763-16T>C
ENST00000487183.1:n.414-16T>C
ENST00000617423.4:c.559+1906T>C	ENSP00000478688.1:n.559+1906T>C
NM_000488.3:c.763-16T>C , LRG_577t1:c.763-16T>C	NP_000479.1:n.763-16T>C
XM_005245198.2:c.619-16T>C	XP_005245255.1:n.619-16T>C
NM_001365052.1:c.619-16T>C	NP_001351981.1:n.619-16T>C
NM_000488.4:c.763-16T>C MANE Select	NP_000479.1:n.763-16T>C
NM_001365052.2:c.619-16T>C	NP_001351981.1:n.619-16T>C
NM_001386302.1:c.886-16T>C	NP_001373231.1:n.886-16T>C
NM_001386303.1:c.844-16T>C	NP_001373232.1:n.844-16T>C
NM_001386304.1:c.742-16T>C	NP_001373233.1:n.742-16T>C
NM_001386305.1:c.763-73T>C	NP_001373234.1:n.763-73T>C
NM_001386306.1:c.547-16T>C	NP_001373235.1:n.547-16T>C