Canonical Allele Identifier: CA349987871

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 3030688
• ClinVar RCV Id: RCV003893844
• gnomAD v4: 2-189563951-C-A
• MyVariant Identifiers: chr2:g.190428677C>A (hg19) ; chr2:g.189563951C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563951C>A , CM000664.2:g.189563951C>A	GRCh38
NC_000002.11:g.190428677C>A , CM000664.1:g.190428677C>A	GRCh37
NC_000002.10:g.190136922C>A	NCBI36
NG_009027.1:g.21861G>T , LRG_837:g.21861G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.1035G>T MANE Select	ENSP00000261024.3:p.Leu345Phe
ENST00000261024.6:c.1035G>T	ENSP00000261024.2:p.Leu345Phe
NM_014585.5:c.1035G>T , LRG_837t1:c.1035G>T	NP_055400.1:p.Leu345Phe
XM_005246505.1:c.915G>T	XP_005246562.1:p.Leu305Phe
XM_005246505.2:c.915G>T	XP_005246562.1:p.Leu305Phe
XM_017003938.2:c.915G>T	XP_016859427.1:p.Leu305Phe
NM_014585.6:c.1035G>T MANE Select	NP_055400.1:p.Leu345Phe