Canonical Allele Identifier: CA349987448

Gene: SLC40A1

Linked Data

• dbSNP Id: rs2030833955
• gnomAD v3: 2-189563746-G-A
• gnomAD v4: 2-189563746-G-A
• MyVariant Identifiers: chr2:g.190428472G>A (hg19) ; chr2:g.189563746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563746G>A , CM000664.2:g.189563746G>A	GRCh38
NC_000002.11:g.190428472G>A , CM000664.1:g.190428472G>A	GRCh37
NC_000002.10:g.190136717G>A	NCBI36
NG_009027.1:g.22066C>T , LRG_837:g.22066C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.1240C>T MANE Select	ENSP00000261024.3:p.Gln414Ter
ENST00000261024.6:c.1240C>T	ENSP00000261024.2:p.Gln414Ter
NM_014585.5:c.1240C>T , LRG_837t1:c.1240C>T	NP_055400.1:p.Gln414Ter
XM_005246505.1:c.1120C>T	XP_005246562.1:p.Gln374Ter
XM_005246505.2:c.1120C>T	XP_005246562.1:p.Gln374Ter
XM_017003938.2:c.1120C>T	XP_016859427.1:p.Gln374Ter
NM_014585.6:c.1240C>T MANE Select	NP_055400.1:p.Gln414Ter