Canonical Allele Identifier: CA62904038

Gene: SLC40A1

Linked Data

• dbSNP Id: rs374617058
• gnomAD v3: 2-189575218-C-G
• gnomAD v4: 2-189575218-C-G
• MyVariant Identifiers: chr2:g.190439944C>G (hg19) ; chr2:g.189575218C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575218C>G , CM000664.2:g.189575218C>G	GRCh38
NC_000002.11:g.190439944C>G , CM000664.1:g.190439944C>G	GRCh37
NC_000002.10:g.190148189C>G	NCBI36
NG_009027.1:g.10594G>C , LRG_837:g.10594G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.214G>C MANE Select	ENSP00000261024.3:p.Val72Leu
ENST00000261024.6:c.214G>C	ENSP00000261024.2:p.Val72Leu
ENST00000418714.1:n.655G>C
ENST00000427241.5:c.214G>C	ENSP00000390005.1:p.Val72Leu
ENST00000479598.5:n.495G>C
NM_014585.5:c.214G>C , LRG_837t1:c.214G>C	NP_055400.1:p.Val72Leu
XM_005246505.1:c.94G>C	XP_005246562.1:p.Val32Leu
XM_005246505.2:c.94G>C	XP_005246562.1:p.Val32Leu
XM_017003938.2:c.94G>C	XP_016859427.1:p.Val32Leu
NM_014585.6:c.214G>C MANE Select	NP_055400.1:p.Val72Leu