Canonical Allele Identifier: CA378163854

Gene: CWF19L1

Linked Data

• MyVariant Identifiers: chr10:g.102005572C>G (hg19) ; chr10:g.100245815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100245815C>G , CM000672.2:g.100245815C>G	GRCh38
NC_000010.10:g.102005572C>G , CM000672.1:g.102005572C>G	GRCh37
NC_000010.9:g.101995562C>G	NCBI36
NG_041811.1:g.26867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.948G>C MANE Select	ENSP00000326411.6:p.Lys316Asn
ENST00000354105.8:c.948G>C	ENSP00000326411.6:p.Lys316Asn
ENST00000370379.1:c.213G>C	ENSP00000359405.1:p.Lys71Asn
ENST00000466408.1:n.302G>C
ENST00000466955.5:n.489G>C
ENST00000468709.5:n.804G>C
ENST00000478047.1:n.1200-7584G>C
ENST00000482452.5:n.636G>C
ENST00000496796.5:n.712G>C
NM_001303404.1:c.948G>C	NP_001290333.1:p.Lys316Asn
NM_001303405.1:c.537G>C	NP_001290334.1:p.Lys179Asn
NM_001303406.1:c.537G>C	NP_001290335.1:p.Lys179Asn
NM_001303407.1:c.213G>C	NP_001290336.1:p.Lys71Asn
NM_018294.5:c.948G>C	NP_060764.3:p.Lys316Asn
NM_018294.6:c.948G>C MANE Select	NP_060764.3:p.Lys316Asn
NM_001303404.2:c.948G>C	NP_001290333.1:p.Lys316Asn
NM_001303405.2:c.537G>C	NP_001290334.1:p.Lys179Asn
NM_001303406.2:c.537G>C	NP_001290335.1:p.Lys179Asn
NM_001303407.2:c.213G>C	NP_001290336.1:p.Lys71Asn