Canonical Allele Identifier: CA399782973

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1273756688
• gnomAD v3: 17-44254584-A-C
• gnomAD v4: 17-44254584-A-C
• MyVariant Identifiers: chr17:g.42331952A>C (hg19) ; chr17:g.44254584A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254584A>C , CM000679.2:g.44254584A>C	GRCh38
NC_000017.10:g.42331952A>C , CM000679.1:g.42331952A>C	GRCh37
NC_000017.9:g.39687478A>C	NCBI36
NG_007498.1:g.18551T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1969T>G MANE Select	ENSP00000262418.6:p.Ser657Ala
ENST00000262418.10:c.1969T>G	ENSP00000262418.6:p.Ser657Ala
ENST00000399246.3:c.871T>G	ENSP00000382190.3:p.Ser291Ala
NM_000342.3:c.1969T>G	NP_000333.1:p.Ser657Ala
XM_005257593.3:c.1774T>G	XP_005257650.1:p.Ser592Ala
XM_011525129.1:c.1879T>G	XP_011523431.1:p.Ser627Ala
XM_011525130.1:c.1969T>G	XP_011523432.1:p.Ser657Ala
XM_011525131.1:c.1969T>G	XP_011523433.1:p.Ser657Ala
XM_005257593.5:c.1774T>G	XP_005257650.1:p.Ser592Ala
XM_011525129.2:c.1879T>G	XP_011523431.1:p.Ser627Ala
NM_000342.4:c.1969T>G MANE Select	NP_000333.1:p.Ser657Ala