Canonical Allele Identifier: CA290928466

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 1500042
• ClinVar RCV Id: RCV002013231
• dbSNP Id: rs199929662
• gnomAD v2: 17-42331913-G-C
• gnomAD v3: 17-44254545-G-C
• gnomAD v4: 17-44254545-G-C
• MyVariant Identifiers: chr17:g.42331913G>C (hg19) ; chr17:g.44254545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254545G>C , CM000679.2:g.44254545G>C	GRCh38
NC_000017.10:g.42331913G>C , CM000679.1:g.42331913G>C	GRCh37
NC_000017.9:g.39687439G>C	NCBI36
NG_007498.1:g.18590C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2008C>G MANE Select	ENSP00000262418.6:p.Pro670Ala
ENST00000262418.10:c.2008C>G	ENSP00000262418.6:p.Pro670Ala
ENST00000399246.3:c.910C>G	ENSP00000382190.3:p.Pro304Ala
NM_000342.3:c.2008C>G	NP_000333.1:p.Pro670Ala
XM_005257593.3:c.1813C>G	XP_005257650.1:p.Pro605Ala
XM_011525129.1:c.1918C>G	XP_011523431.1:p.Pro640Ala
XM_011525130.1:c.2008C>G	XP_011523432.1:p.Pro670Ala
XM_011525131.1:c.2008C>G	XP_011523433.1:p.Pro670Ala
XM_005257593.5:c.1813C>G	XP_005257650.1:p.Pro605Ala
XM_011525129.2:c.1918C>G	XP_011523431.1:p.Pro640Ala
NM_000342.4:c.2008C>G MANE Select	NP_000333.1:p.Pro670Ala