Canonical Allele Identifier: CA348024158

Gene: SULT1C4

Linked Data

• ClinVar Variation Id: 2269769
• ClinVar RCV Id: RCV004125516
• dbSNP Id: rs1430067975
• gnomAD v2: 2-108994862-G-C
• gnomAD v4: 2-108378406-G-C
• MyVariant Identifiers: chr2:g.108994862G>C (hg19) ; chr2:g.108378406G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108378406G>C , CM000664.2:g.108378406G>C	GRCh38
NC_000002.11:g.108994862G>C , CM000664.1:g.108994862G>C	GRCh37
NC_000002.10:g.108361294G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272452.7:c.69G>C MANE Select	ENSP00000272452.2:p.Lys23Asn
ENST00000272452.6:c.69G>C	ENSP00000272452.2:p.Lys23Asn
ENST00000409309.3:c.69G>C	ENSP00000387225.3:p.Lys23Asn
ENST00000494122.1:n.496G>C
NM_006588.2:c.69G>C	NP_006579.2:p.Lys23Asn
XM_005263919.2:c.69G>C	XP_005263976.1:p.Lys23Asn
NM_001321770.1:c.69G>C	NP_001308699.1:p.Lys23Asn
NM_006588.3:c.69G>C	NP_006579.2:p.Lys23Asn
NR_135776.1:n.496G>C
NR_135779.1:n.496G>C
NM_006588.4:c.69G>C MANE Select	NP_006579.2:p.Lys23Asn
NM_001321770.2:c.69G>C	NP_001308699.1:p.Lys23Asn
NR_135776.2:n.453G>C
NR_135779.2:n.453G>C