Canonical Allele Identifier: CA127374

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 17755
• ClinVar RCV Id: RCV000019332 ; RCV001811190
• dbSNP Id: rs28931583
• ExAC: 17:42335888 G / C
• gnomAD v2: 17-42335888-G-C
• gnomAD v3: 17-44258520-G-C
• gnomAD v4: 17-44258520-G-C
• MyVariant Identifiers: chr17:g.42335888G>C (hg19) ; chr17:g.44258520G>C (hg38)
• PubMed: PMID:1378323

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44258520G>C , CM000679.2:g.44258520G>C	GRCh38
NC_000017.10:g.42335888G>C , CM000679.1:g.42335888G>C	GRCh37
NC_000017.9:g.39691414G>C	NCBI36
NG_007498.1:g.14615C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.980C>G MANE Select	ENSP00000262418.6:p.Pro327Arg
ENST00000262418.10:c.980C>G	ENSP00000262418.6:p.Pro327Arg
ENST00000399246.3:c.777+742C>G	ENSP00000382190.3:n.777+742C>G
ENST00000497360.5:n.1119C>G
NM_000342.3:c.980C>G	NP_000333.1:p.Pro327Arg
XM_005257593.3:c.785C>G	XP_005257650.1:p.Pro262Arg
XM_011525129.1:c.980C>G	XP_011523431.1:p.Pro327Arg
XM_011525130.1:c.980C>G	XP_011523432.1:p.Pro327Arg
XM_011525131.1:c.980C>G	XP_011523433.1:p.Pro327Arg
XM_005257593.5:c.785C>G	XP_005257650.1:p.Pro262Arg
XM_011525129.2:c.980C>G	XP_011523431.1:p.Pro327Arg
NM_000342.4:c.980C>G MANE Select	NP_000333.1:p.Pro327Arg