Canonical Allele Identifier: CA1357214
Gene: SLC41A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.205795512G>A
GRCh37 chr1:g.205764640G>A
gnomAD v2:
1:205764640 G / A
gnomAD v3:
1:205795512 G / A
gnomAD v4:
chr1-205795512-G-A
Joint Max Group AF 0.82352886 (NFE)
Genomes Max Group AF 0.82153545 (NFE)
Exomes Max Group AF 0.82334227 (NFE)
ClinVar RCV:
RCV001540981
ClinVar Variation:
1183197
dbSNP:
823156
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205795512G>A , CM000663.2:g.205795512G>A GRCh38
NC_000001.10:g.205764640G>A , CM000663.1:g.205764640G>A GRCh37
NC_000001.9:g.204031263G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367137.4:c.1073-34C>T MANE Select ENSP00000356105.3:n.1073-34C>T
ENST00000367137.3:c.1073-34C>T ENSP00000356105.3:n.1073-34C>T
ENST00000468057.5:n.869-34C>T
ENST00000484228.1:n.1105C>T
NM_173854.5:c.1073-34C>T NP_776253.3:n.1073-34C>T
XM_005245069.1:c.1073-34C>T XP_005245126.1:n.1073-34C>T
XM_005245069.2:c.1073-34C>T XP_005245126.1:n.1073-34C>T
NM_173854.6:c.1073-34C>T MANE Select NP_776253.3:n.1073-34C>T
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